1-44433052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433052
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.333C>T
  hgvsp: ENST00000372339.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2679C>T
  hgvsp: ENST00000372343.3:c.2679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.221C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn893Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

1-44433055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433055
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433055
    reference: chr 1
allele count: 516
allele frequency: 4.274283063567535e-3
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2682G>A
  hgvsp: ENST00000372343.3:c.2682G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.224G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.336G>A
  hgvsp: ENST00000372339.3:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13637
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 495
genotype quality: GenotypeQuality
  all individuals: 34317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10068
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Lys894Lys
num of homozygotes: 18
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-44433055-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433055
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433055
    reference: chr 1
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.336G>C
  hgvsp: ENSP00000361414.3:p.Lys112Asn
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.224G>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2682G>C
  hgvsp: ENSP00000361418.3:p.Lys894Asn
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys894Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-44433083-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433083
    reference: chr 1
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2710A>C
  hgvsp: ENSP00000361418.3:p.Ile904Leu
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.252A>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.364A>C
  hgvsp: ENSP00000361414.3:p.Ile122Leu
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile904Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-44433087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433087
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433087
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.368A>G
  hgvsp: ENSP00000361414.3:p.Lys123Arg
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2714A>G
  hgvsp: ENSP00000361418.3:p.Lys905Arg
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.256A>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys905Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-44433093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433093
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433093
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.374C>T
  hgvsp: ENSP00000361414.3:p.Ala125Val
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2720C>T
  hgvsp: ENSP00000361418.3:p.Ala907Val
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.262C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34188
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala907Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-44433099-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433099
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433099
    reference: chr 1
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.380A>T
  hgvsp: ENSP00000361414.3:p.Gln127Leu
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2726A>T
  hgvsp: ENSP00000361418.3:p.Gln909Leu
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.268A>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
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genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 275
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2966
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln909Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-44433119-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433119
    reference: chr 1
allele count: 26
allele frequency: 2.157747975036516e-4
allele num: 120496
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2746G>C
  hgvsp: ENSP00000361418.3:p.Ala916Pro
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.288G>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.400G>C
  hgvsp: ENSP00000361414.3:p.Ala134Pro
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25777
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1014
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genotype quality: GenotypeQuality
  all individuals: 9914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala916Pro
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-44433137-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433137
    reference: chr 1
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2764C>G
  hgvsp: ENSP00000361418.3:p.Gln922Glu
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.418C>G
  hgvsp: ENSP00000361414.3:p.Gln140Glu
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.306C>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34116
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln922Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-44433143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433143
    reference: chr 1
allele count: 6
allele frequency: 4.974629390110437e-5
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.424G>A
  hgvsp: ENSP00000361414.3:p.Asp142Asn
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2770G>A
  hgvsp: ENSP00000361418.3:p.Asp924Asn
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.312G>A
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp924Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-44433147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433147
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433147
    reference: chr 1
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2774C>T
  hgvsp: ENSP00000361418.3:p.Thr925Ile
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.428C>T
  hgvsp: ENSP00000361414.3:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.316C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr925Ile
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: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-44433147-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433147
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433147
    reference: chr 1
allele count: 2
allele frequency: 1.657824933687002e-5
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.428C>A
  hgvsp: ENSP00000361414.3:p.Thr143Asn
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.316C>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2774C>A
  hgvsp: ENSP00000361418.3:p.Thr925Asn
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25721
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr925Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS

1-44433157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433157
    reference: chr 1
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.326G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2784G>A
  hgvsp: ENST00000372343.3:c.2784G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.438G>A
  hgvsp: ENST00000372339.3:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln928Gln
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-44433164-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433164
    reference: chr 1
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.445C>G
  hgvsp: ENSP00000361414.3:p.Leu149Val
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.333C>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2791C>G
  hgvsp: ENSP00000361418.3:p.Leu931Val
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12811
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1335
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu931Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

1-44433167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433167
    reference: chr 1
allele count: 4
allele frequency: 3.315375051802735e-5
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.336C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2794C>T
  hgvsp: ENSP00000361418.3:p.Arg932Cys
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.448C>T
  hgvsp: ENSP00000361414.3:p.Arg150Cys
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 484
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33352
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg932Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-44433168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433168
    reference: chr 1
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449G>A
  hgvsp: ENSP00000361414.3:p.Arg150His
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795G>A
  hgvsp: ENSP00000361418.3:p.Arg932His
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12691
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 483
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 178
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg932His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-44433171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433171
    reference: chr 1
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+3G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+3G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+3G>A
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2795+3G>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-44433180-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433179
    reference: chr 1
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+16delG
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+16delG
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+16delG
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: TG
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-44433183-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433183
    reference: chr 1
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+15G>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+15G>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+15G>C
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-44433183-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433183
    reference: chr 1
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+15G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+15G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+15G>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9309
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-44433188-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433188
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433188
    reference: chr 1
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+20G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+20G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+20G>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-44433189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433189
    reference: chr 1
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+21C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+21C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+21C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  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: 3216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

1-44433190-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433190
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433190
    reference: chr 1
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+22C>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+22C>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+22C>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
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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: 34158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-44433191-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433191
    reference: chr 1
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+23T>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+23T>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+23T>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-44433207-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433207
    reference: chr 1
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+39G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+39G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+39G>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24589
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-44433208-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433208
    reference: chr 1
allele count: 112
allele frequency: 9.262015811584136e-4
allele num: 120924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+40G>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+40G>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+40G>C
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 24613
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 9.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

1-44433209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433209
    reference: chr 1
allele count: 12
allele frequency: 9.922275508516619e-5
allele num: 120940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.449+41G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2795+41G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.337+41G>A
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-44433214-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433214
    reference: chr 1
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.338-44G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2796-44G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.450-44G>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-44433219-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433219
    reference: chr 1
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.450-39G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.338-39G>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2796-39G>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-44433222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433222
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433222
    reference: chr 1
allele count: 2
allele frequency: 1.653329806229747e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.450-36G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2796-36G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.338-36G>A
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-44433228-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433228
    reference: chr 1
allele count: 6
allele frequency: 4.996003197442046e-5
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.450-30T>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.338-30T>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2796-30T>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34443
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1017
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

1-44433235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433235
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433235
    reference: chr 1
allele count: 3
allele frequency: 2.4786014078456e-5
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.338-23C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.450-23C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2796-23C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24898
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8862
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-44433240-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433240
    reference: chr 1
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.450-18C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2796-18C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.338-18C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14733
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11819
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genotype depth: GenotypeDepth
  all individuals: 27
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
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genotype quality: GenotypeQuality
  all individuals: 228
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 961
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-44433254-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433254
    reference: chr 1
allele count: 3
allele frequency: 2.475247524752475e-5
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.338-4T>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2796-4T>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.450-4T>A
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9072
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2796-4T>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-44433263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433263
    reference: chr 1
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.455G>A
  hgvsp: ENSP00000361414.3:p.Arg152Gln
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2801G>A
  hgvsp: ENSP00000361418.3:p.Arg934Gln
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.343G>A
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
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genotype depth: GenotypeDepth
  all individuals: 82
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genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1099
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg934Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-44433269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433269
    reference: chr 1
allele count: 9
allele frequency: 7.4223131226496e-5
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2807A>G
  hgvsp: ENSP00000361418.3:p.Asn936Ser
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.349A>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.461A>G
  hgvsp: ENSP00000361414.3:p.Asn154Ser
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14773
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3195
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 978
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Asn936Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-44433277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433277
    reference: chr 1
allele count: 5
allele frequency: 4.12452774157359e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2815C>T
  hgvsp: ENSP00000361418.3:p.Arg939Trp
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.357C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.469C>T
  hgvsp: ENSP00000361414.3:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25080
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2106
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3917
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
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genotype depth: GenotypeDepth
  all individuals: 575
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 378
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2100
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1067
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3131
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg939Trp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-44433278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433278
    reference: chr 1
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.358G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2816G>A
  hgvsp: ENSP00000361418.3:p.Arg939Gln
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.470G>A
  hgvsp: ENSP00000361414.3:p.Arg157Gln
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg939Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-44433281-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433281
    reference: chr 1
allele count: 616
allele frequency: 5.573147561747942e-3
allele num: 110530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.473T>G
  hgvsp: ENSP00000361414.3:p.Val158Gly
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2819T>G
  hgvsp: ENSP00000361418.3:p.Val940Gly
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.361T>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 4.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 3.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 24062
  bin: 2.75e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 2.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 5.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 1.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 30915
  bin: 6.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 841
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  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 43
hgvs: p.Val940Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-44433306-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433306
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433306
    reference: chr 1
allele count: 35
allele frequency: 2.888789844665643e-4
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.386A>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2844A>G
  hgvsp: ENST00000372343.3:c.2844A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.498A>G
  hgvsp: ENST00000372339.3:c.498A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10890
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr948Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-44433315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433315
    reference: chr 1
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.507C>T
  hgvsp: ENST00000372339.3:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2853C>T
  hgvsp: ENST00000372343.3:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.395C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 130
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genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8512
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genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 104
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genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 63
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genotype quality: GenotypeQuality
  all individuals: 76
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genotype quality: GenotypeQuality
  all individuals: 407
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43701
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys951Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-44433316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433316
    reference: chr 1
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.508C>T
  hgvsp: ENSP00000361414.3:p.Arg170Trp
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.396C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2854C>T
  hgvsp: ENSP00000361418.3:p.Arg952Trp
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg952Trp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-44433320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433320
    reference: chr 1
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.512G>A
  hgvsp: ENSP00000361414.3:p.Gly171Asp
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.400G>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2858G>A
  hgvsp: ENSP00000361418.3:p.Gly953Asp
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15480
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 103
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly953Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-44433335-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433335
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433335
    reference: chr 1
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.2873A>C
  hgvsp: ENSP00000361418.3:p.Asp958Ala
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.527A>C
  hgvsp: ENSP00000361414.3:p.Asp176Ala
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117408
  ensembl transcript: ENST00000486876
  gene symbol: IPO13
  hgvsc: ENST00000486876.1:n.415A>C
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp958Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/1-44433361-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433361
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433361
    reference: chr 1
allele count: 435
allele frequency: 3.666183460877187e-3
allele num: 118652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*7C>A
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*7C>A
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14130
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 187
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  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 27619
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 45
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 22
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 30
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 322
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genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 56
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  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 39908
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1952
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1686
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  variant carriers: 423
num of homozygotes: 6
population: Latino
  type: Population
  allele count: 15
  allele frequency: 1.329080276448698e-3
  allele num: 11286
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-44433361-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433361
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433361
    reference: chr 1
allele count: 3
allele frequency: 2.528402386811853e-5
allele num: 118652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*7C>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*7C>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65358
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-44433365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433365
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433365
    reference: chr 1
allele count: 1
allele frequency: 8.492424757116652e-6
allele num: 117752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*11C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*11C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11198
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-44433370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433370
    reference: chr 1
allele count: 1
allele frequency: 8.538397172082857e-6
allele num: 117118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*16C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*16C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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population: Latino
  type: Population
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  allele num: 11124
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-44433378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433378
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433378
    reference: chr 1
allele count: 1
allele frequency: 8.637368711995577e-6
allele num: 115776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*24C>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*24C>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  allele num: 8252
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
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1-44433378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433378
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433378
    reference: chr 1
allele count: 8
allele frequency: 6.909894969596462e-5
allele num: 115776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*24C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*24C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  type: Population
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  allele num: 8252
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-44433384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433384
    reference: chr 1
allele count: 366
allele frequency: 3.187042842215256e-3
allele num: 114840
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*30C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*30C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 13904
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 349
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23574
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 7
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63342
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-44433386-TCATC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433382
    reference: chr 1
allele count: 2
allele frequency: 1.74532253560458e-5
allele num: 114592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*34_*37delATCC
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*34_*37delATCC
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 822
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genotype quality: GenotypeQuality
  all individuals: 23032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9746
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: TCATC
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-44433388-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433388
    reference: chr 1
allele count: 1
allele frequency: 8.789972399486666e-6
allele num: 113766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*34A>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*34A>C
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
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genotype quality: GenotypeQuality
  all individuals: 1707
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genotype quality: GenotypeQuality
  all individuals: 818
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
  all individuals: 378
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genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5830
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

1-44433394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433394
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433394
    reference: chr 1
allele count: 2
allele frequency: 1.776924853847931e-5
allele num: 112554
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*40C>T
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*40C>T
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5752
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-44433397-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433397
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433397
    reference: chr 1
allele count: 2
allele frequency: 1.791440497303882e-5
allele num: 111642
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*43T>C
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*43T>C
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10452
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-44433398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44433398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44433398
    reference: chr 1
allele count: 8
allele frequency: 7.200331215235901e-5
allele num: 111106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361414
  ensembl transcript: ENST00000372339
  gene symbol: IPO13
  hgvsc: ENST00000372339.3:c.*44A>G
  variant of: http://identifiers.org/hgnc/16853
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000117408
  ensembl protein: ENSP00000361418
  ensembl transcript: ENST00000372343
  gene symbol: IPO13
  hgvsc: ENST00000372343.3:c.*44A>G
  variant of: http://identifiers.org/hgnc/16853
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11503
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15605
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14563
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 9467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 9.613535858488752e-5
  allele num: 10402
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-44435799-GCTGTCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435793
    reference: chr 1
allele count: 2
allele frequency: 1.739886907351022e-5
allele num: 114950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.-47_-42delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.-47_-42delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.120_125delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.106_111delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.-47_-42delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.130_135delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.101_106delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.25_30delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.101_106delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.-47_-42delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.-47_-42delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-228_-223delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.-47_-42delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.107_112delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.-47_-42delTGTCCC
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: GCTGTCC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

1-44435802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435802
    reference: chr 1
allele count: 1
allele frequency: 8.701099819017123e-6
allele num: 114928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-227G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.26G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.121G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.107G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.102G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.-46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.108G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.131G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.-46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.102G>A
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

1-44435805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435805
    reference: chr 1
allele count: 1
allele frequency: 8.700948403375968e-6
allele num: 114930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.111C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.110C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.29C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.105C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.-43C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-224C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.105C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.134C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.124C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.-43C>T
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-44435820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435820
    reference: chr 1
allele count: 540
allele frequency: 4.666436225371586e-3
allele num: 115720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.44C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.125C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.120C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.120C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-209C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.149C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.126C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.139C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.-28C>T
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 4.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
num of homozygotes: 19
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD

1-44435822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435822
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435822
    reference: chr 1
allele count: 4
allele frequency: 3.45214464486062e-5
allele num: 115870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.-26G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.128G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.-26G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.-26G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.122G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.122G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-207G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.-26G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.46G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.-26G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.-26G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.127G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.151G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.141G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.-26G>A
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-44435839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435839
    reference: chr 1
allele count: 4
allele frequency: 3.401996972222695e-5
allele num: 117578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-190C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.-9C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.158C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.139C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.-9C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.139C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.145C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.168C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.144C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.63C>T
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-44435849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435849
    reference: chr 1
allele count: 1
allele frequency: 8.430281571404485e-6
allele num: 118620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.2T>C
  hgvsp: ENSP00000431944.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.2T>C
  hgvsp: ENSP00000436330.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.154T>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.2T>C
  hgvsp: ENSP00000433273.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.73T>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.2T>C
  hgvsp: ENSP00000431831.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.2T>C
  hgvsp: ENSP00000434977.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-180T>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.2T>C
  hgvsp: ENSP00000255108.3:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.168T>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.2T>C
  hgvsp: ENSP00000379981.2:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.178T>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.149T>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.149T>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.155T>C
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

1-44435850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435850
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435850
    reference: chr 1
allele count: 1
allele frequency: 8.421478137842754e-6
allele num: 118744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.179G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.156G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.150G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.3G>A
  hgvsp: ENSP00000434977.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.3G>A
  hgvsp: ENSP00000431831.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.155G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.3G>A
  hgvsp: ENSP00000433273.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.3G>A
  hgvsp: ENSP00000255108.3:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.3G>A
  hgvsp: ENSP00000436330.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.3G>A
  hgvsp: ENSP00000431944.1:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.3G>A
  hgvsp: ENSP00000379981.2:p.Met1?
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.150G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.169G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.74G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-179G>A
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-44435851-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435851
    reference: chr 1
allele count: 1
allele frequency: 8.414675193537529e-6
allele num: 118840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.170G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.4G>C
  hgvsp: ENSP00000255108.3:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.4G>C
  hgvsp: ENSP00000431831.1:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.4G>C
  hgvsp: ENSP00000433273.1:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.4G>C
  hgvsp: ENSP00000379981.2:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-178G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.156G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.4G>C
  hgvsp: ENSP00000431944.1:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.4G>C
  hgvsp: ENSP00000434977.1:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.151G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.75G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.180G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.4G>C
  hgvsp: ENSP00000436330.1:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.151G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.157G>C
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-44435853-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435853
    reference: chr 1
allele count: 1
allele frequency: 8.402090440101497e-6
allele num: 119018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-176G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.6G>C
  hgvsp: ENSP00000379981.2:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.153G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.6G>C
  hgvsp: ENSP00000431944.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.6G>C
  hgvsp: ENSP00000434977.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.153G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.6G>C
  hgvsp: ENSP00000433273.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.6G>C
  hgvsp: ENSP00000436330.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.77G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.159G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.6G>C
  hgvsp: ENSP00000255108.3:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.158G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.172G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.6G>C
  hgvsp: ENSP00000431831.1:p.Glu2Asp
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.182G>C
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-44435868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435868
    reference: chr 1
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.21C>T
  hgvsp: ENST00000476260.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.21C>T
  hgvsp: ENST00000396758.2:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.174C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.187C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.173C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.168C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.21C>T
  hgvsp: ENST00000255108.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.21C>T
  hgvsp: ENST00000492306.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.21C>T
  hgvsp: ENST00000495421.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-161C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.197C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.92C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.21C>T
  hgvsp: ENST00000532140.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.21C>T
  hgvsp: ENST00000524776.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.168C>T
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser7Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-44435869-CCTGCCGAGGCGGCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435869
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435855
    reference: chr 1
allele count: 3
allele frequency: 2.496587996404913e-5
allele num: 120164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsp: ENSP00000436330.1:p.Glu10AlafsTer101
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsp: ENSP00000434977.1:p.Glu10AlafsTer34
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsp: ENSP00000379981.2:p.Glu10AlafsTer34
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsp: ENSP00000433273.1:p.Glu10AlafsTer34
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsp: ENSP00000431944.1:p.Glu10AlafsTer459
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsp: ENSP00000431831.1:p.Glu10AlafsTer95
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsp: ENSP00000255108.3:p.Glu10AlafsTer34
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu10AlafsTer34
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: CCTGCCGAGGCGGCG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

1-44435870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435870
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435870
    reference: chr 1
allele count: 2
allele frequency: 1.663699735471742e-5
allele num: 120214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.176C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.23C>T
  hgvsp: ENSP00000431944.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.23C>T
  hgvsp: ENSP00000436330.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.23C>T
  hgvsp: ENSP00000431831.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.199C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.175C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.23C>T
  hgvsp: ENSP00000379981.2:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.189C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.94C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.23C>T
  hgvsp: ENSP00000433273.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.23C>T
  hgvsp: ENSP00000255108.3:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.23C>T
  hgvsp: ENSP00000434977.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.170C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-159C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.170C>T
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro8Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-44435880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435880
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435880
    reference: chr 1
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.199G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.33G>A
  hgvsp: ENST00000476260.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.104G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.180G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.33G>A
  hgvsp: ENST00000396758.2:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.209G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.33G>A
  hgvsp: ENST00000255108.3:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-149G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.33G>A
  hgvsp: ENST00000524776.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.185G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.33G>A
  hgvsp: ENST00000492306.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.33G>A
  hgvsp: ENST00000532140.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.33G>A
  hgvsp: ENST00000495421.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.180G>A
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.186G>A
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala11Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-44435882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435882
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435882
    reference: chr 1
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.106C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-147C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.35C>T
  hgvsp: ENSP00000433273.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.35C>T
  hgvsp: ENSP00000434977.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.35C>T
  hgvsp: ENSP00000431831.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.188C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.182C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.35C>T
  hgvsp: ENSP00000436330.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.35C>T
  hgvsp: ENSP00000255108.3:p.Ala12Val
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.35C>T
  hgvsp: ENSP00000379981.2:p.Ala12Val
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.182C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.211C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.35C>T
  hgvsp: ENSP00000431944.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.201C>T
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.187C>T
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala12Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-44435892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435892
    reference: chr 1
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-137A>G
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.192A>G
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.116A>G
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.45A>G
  hgvsp: ENST00000492306.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.197A>G
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.45A>G
  hgvsp: ENST00000476260.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.45A>G
  hgvsp: ENST00000255108.3:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.45A>G
  hgvsp: ENST00000532140.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.198A>G
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.45A>G
  hgvsp: ENST00000495421.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.192A>G
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.45A>G
  hgvsp: ENST00000524776.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.211A>G
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.45A>G
  hgvsp: ENST00000396758.2:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.221A>G
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg15Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-44435893-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44435893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44435893
    reference: chr 1
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431944
  ensembl transcript: ENST00000495421
  gene symbol: DPH2
  hgvsc: ENST00000495421.1:c.46G>C
  hgvsp: ENSP00000431944.1:p.Glu16Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000436330
  ensembl transcript: ENST00000476260
  gene symbol: DPH2
  hgvsc: ENST00000476260.1:c.46G>C
  hgvsp: ENSP00000436330.1:p.Glu16Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000433273
  ensembl transcript: ENST00000492306
  gene symbol: DPH2
  hgvsc: ENST00000492306.1:c.46G>C
  hgvsp: ENSP00000433273.1:p.Glu16Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000529729
  gene symbol: DPH2
  hgvsc: ENST00000529729.1:n.193G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000413862
  ensembl transcript: ENST00000412950
  gene symbol: DPH2
  hgvsc: ENST00000412950.2:c.-136G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000379981
  ensembl transcript: ENST00000396758
  gene symbol: DPH2
  hgvsc: ENST00000396758.2:c.46G>C
  hgvsp: ENSP00000379981.2:p.Glu16Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000477294
  gene symbol: DPH2
  hgvsc: ENST00000477294.1:n.193G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000534786
  gene symbol: DPH2
  hgvsc: ENST00000534786.1:n.117G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000434977
  ensembl transcript: ENST00000524776
  gene symbol: DPH2
  hgvsc: ENST00000524776.1:c.46G>C
  hgvsp: ENSP00000434977.1:p.Glu16Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000530988
  gene symbol: DPH2
  hgvsc: ENST00000530988.1:n.212G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000490861
  gene symbol: DPH2
  hgvsc: ENST00000490861.1:n.198G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000527567
  gene symbol: DPH2
  hgvsc: ENST00000527567.1:n.199G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132768
  ensembl transcript: ENST00000471934
  gene symbol: DPH2
  hgvsc: ENST00000471934.1:n.222G>C
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000431831
  ensembl transcript: ENST00000532140
  gene symbol: DPH2
  hgvsc: ENST00000532140.1:c.46G>C
  hgvsp: ENSP00000431831.1:p.Glu16Gln
  variant of: http://identifiers.org/hgnc/3004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132768
  ensembl protein: ENSP00000255108
  ensembl transcript: ENST00000255108
  gene symbol: DPH2
  hgvsc: ENST00000255108.3:c.46G>C
  hgvsp: ENSP00000255108.3:p.Glu16Gln
  variant of: http://identifiers.org/hgnc/3004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu16Gln
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
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: 11564
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.706e1

VQSLOD
type: SiteQuality
SIO_000300: -6.279e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.33e-2

DP
type: SiteQuality
SIO_000300: 1.781652e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
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: 2
allele frequency: 3.01987074953192e-5
allele num: 66228
num of homozygotes: 0

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

Latino
type: Population
allele count: 17
allele frequency: 1.470079557246628e-3
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 496
allele frequency: 4.824902723735409e-2
allele num: 10280
num of homozygotes: 18

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

DP
type: SiteQuality
SIO_000300: 1.806316e6

QD
type: SiteQuality
SIO_000300: 1.334e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.271e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.271e0

DP
type: SiteQuality
SIO_000300: 1.806316e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.334e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018412315122246e-5
allele num: 66260
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: 8632
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.768919e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 1.265e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

GenotypeQuality
all individuals: 2973
bin: 9.75e1
variant carriers: 1

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: 10240
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 1.4516e1

VQSLOD
type: SiteQuality
SIO_000300: -1.677e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.767727e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 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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African
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allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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South Asian
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
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South Asian
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allele frequency: 6.05766900896535e-5
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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African
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele num: 900
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South Asian
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allele count: 0
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African
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allele frequency: 2.167487684729064e-3
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 3.465603881476347e-4
allele num: 11542
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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DP
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele num: 6590
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African
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Latino
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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FS
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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African
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allele frequency: 9.809691975671964e-5
allele num: 10194
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66266
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East Asian
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allele frequency: 3.476245654692932e-4
allele num: 8630
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Latino
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allele frequency: 8.665511265164645e-5
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Other
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European (Finnish)
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allele frequency: 0.0e0
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
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African
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 11544
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European (Non-Finnish)
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allele frequency: 3.017683626048645e-5
allele num: 66276
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South Asian
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Other
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 11542
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.508295625942685e-5
allele num: 66300
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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MQRankSum
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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allele frequency: 3.040437823046519e-4
allele num: 6578
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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East Asian
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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Other
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Latino
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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East Asian
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Latino
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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Other
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East Asian
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allele frequency: 0.0e0
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MQRankSum
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
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allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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MQ
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

DP
type: SiteQuality
SIO_000300: 1.726886e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 1.157943492357573e-4
allele num: 8636
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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Other
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allele num: 896
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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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African
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South Asian
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allele frequency: 6.062810719049351e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505751972535084e-5
allele num: 66412
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Other
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South Asian
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MQ
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FS
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 1.505525277769414e-5
allele num: 66422
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DP
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QD
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MQRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

African
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East Asian
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European (Finnish)
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allele count: 0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66448
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Other
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Latino
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allele frequency: 2.603262755987504e-4
allele num: 11524
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 4.515216278859757e-5
allele num: 66442
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African
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allele frequency: 1.023561220548474e-2
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South Asian
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QD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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variant carriers: 12

Other
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African
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allele frequency: 1.061776061776062e-3
allele num: 10360
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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East Asian
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Latino
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allele frequency: 8.673026886383348e-5
allele num: 11530
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QD
type: SiteQuality
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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Other
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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Latino
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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East Asian
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FS
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ClippingRankSum
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Latino
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Other
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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bin: 8.25e1
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Latino
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.543939898821605e-5
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South Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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QD
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66562
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African
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East Asian
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European (Finnish)
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Other
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FS
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VQSLOD
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BaseQRankSum
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QD
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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East Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 1.743883e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500105007350515e-5
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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BaseQRankSum
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QD
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

South Asian
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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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European (Finnish)
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Latino
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allele num: 11556
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
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MQ
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SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.748117e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 2.596503375454388e-4
allele num: 11554
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East Asian
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
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Other
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East Asian
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allele count: 0
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Latino
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MQ
type: SiteQuality
SIO_000300: 5.815e1

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.824e0

BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.75237e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
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variant carriers: 53

South Asian
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allele count: 18
allele frequency: 1.129659846868332e-3
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num of homozygotes: 0

Latino
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allele frequency: 5.554509508567125e-3
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Other
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allele frequency: 7.556675062972292e-3
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African
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allele count: 65
allele frequency: 6.99075069907507e-3
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European (Finnish)
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allele count: 147
allele frequency: 3.114406779661017e-2
allele num: 4720
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European (Non-Finnish)
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allele count: 246
allele frequency: 4.000520392896637e-3
allele num: 61492
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East Asian
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allele count: 75
allele frequency: 9.778357235984355e-3
allele num: 7670
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VQSLOD
type: SiteQuality
SIO_000300: -2.844e2

DP
type: SiteQuality
SIO_000300: 1.775378e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 2.50232e2

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.877649909145972e-3
allele num: 16510
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Other
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allele num: 904
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European (Finnish)
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East Asian
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Latino
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African
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European (Non-Finnish)
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allele count: 0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.668455e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

FS
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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East Asian
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
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European (Finnish)
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allele count: 0
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Latino
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FS
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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ClippingRankSum
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MQ
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QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66566
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South Asian
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Other
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FS
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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allele frequency: 9.637625289128758e-5
allele num: 10376
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European (Non-Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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allele num: 16502
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European (Finnish)
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allele count: 0
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allele num: 6534
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele num: 888
num of homozygotes: 0

Latino
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allele frequency: 8.679048776254123e-5
allele num: 11522
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66410
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
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African
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allele frequency: 4.097714736012608e-2
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num of homozygotes: 6

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.060069157562961e-5
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num of homozygotes: 0

Other
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allele frequency: 2.298850574712644e-3
allele num: 870
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South Asian
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European (Finnish)
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allele count: 0
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InbreedingCoeff
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VQSLOD
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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European (Finnish)
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allele frequency: 0.0e0
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Latino
type: Population
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Other
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South Asian
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allele frequency: 1.845245417640546e-4
allele num: 16258
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African
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East Asian
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allele count: 0
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.598206e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

QD
type: SiteQuality
SIO_000300: 1.326e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.175126590095097e-5
allele num: 16194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.552595e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.813e1

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.776e0

African
type: Population
allele count: 1
allele frequency: 1.003210272873194e-4
allele num: 9968
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16146
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.137e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 4.523e0

DP
type: SiteQuality
SIO_000300: 1.517935e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63812
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.398e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.414303e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.978e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9888
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Latino
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allele count: 8
allele frequency: 7.303268212525105e-4
allele num: 10954
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63812
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 1.978e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 1.414303e6

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.398e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.254691018263698e-5
allele num: 15988
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.399186089530152e-4
allele num: 10812
num of homozygotes: 0

African
type: Population
allele count: 356
allele frequency: 3.637106661217818e-2
allele num: 9788
num of homozygotes: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

QD
type: SiteQuality
SIO_000300: 1.422e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.317988e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.163555836760519e-5
allele num: 63220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10772
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.425e1

QD
type: SiteQuality
SIO_000300: 1.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 1.300416e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.282985674792661e-5
allele num: 15916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.247844e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.962e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62158
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.26374320738026e-4
allele num: 15826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

DP
type: SiteQuality
SIO_000300: 1.206817e6

FS
type: SiteQuality
SIO_000300: 2.931e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.515e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.24454105966711e-5
allele num: 61642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 3.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.122e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

DP
type: SiteQuality
SIO_000300: 1.186095e6

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.141887703500701e-4
allele num: 61302
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

FS
type: SiteQuality
SIO_000300: 1.832e0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.176311e6

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13422
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.119346185039615e-5
allele num: 64116
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6500
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: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 2.236457e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.962e0

MQ
type: SiteQuality
SIO_000300: 5.345e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 7.91e0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5600624024961e-5
allele num: 64100
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 9954
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Other
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allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13424
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

QD
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559527151367705e-5
allele num: 64122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.241362e6

QD
type: SiteQuality
SIO_000300: 7.01e0

VQSLOD
type: SiteQuality
SIO_000300: -9.255e-1

MQRankSum
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SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.361e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeDepth
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variant carriers: 32

GenotypeDepth
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variant carriers: 39

GenotypeDepth
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variant carriers: 59

GenotypeDepth
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variant carriers: 53

GenotypeDepth
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GenotypeDepth
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variant carriers: 7

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.533742331288344e-4
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 516
allele frequency: 5.134328358208955e-2
allele num: 10050
num of homozygotes: 19

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

Latino
type: Population
allele count: 17
allele frequency: 1.478003825421666e-3
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.659253277008138e-5
allele num: 64388
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.449905756125852e-4
allele num: 13794
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.162790697674419e-3
allele num: 860
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.892e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQRankSum
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SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
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SIO_000300: 4.55e-2

DP
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SIO_000300: 2.27253e6

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
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SIO_000300: 4.02e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13872
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.205976355230086e-5
allele num: 64454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

DP
type: SiteQuality
SIO_000300: 2.274391e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.265e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.174e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

GenotypeDepth
all individuals: 1507
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.150818058801821e-5
allele num: 65032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

DP
type: SiteQuality
SIO_000300: 2.304707e6

GenotypeDepth
all individuals: 7421
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.481721545242416e-5
allele num: 15428
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: 894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.320131e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.498e0

QD
type: SiteQuality
SIO_000300: 1.46e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -1.932e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.531e0

FS
type: SiteQuality
SIO_000300: 1.048e0

GenotypeDepth
all individuals: 7424
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 441
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variant carriers: 0

GenotypeDepth
all individuals: 42
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
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: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.044e0

QD
type: SiteQuality
SIO_000300: 1.058e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 2.322655e6

FS
type: SiteQuality
SIO_000300: 1.688e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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MQRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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European (Finnish)
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Other
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MQ
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SIO_000300: 6.0e1

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

African
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European (Non-Finnish)
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allele count: 3
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allele num: 66020
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South Asian
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Other
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East Asian
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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European (Non-Finnish)
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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Other
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European (Finnish)
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 2.352084e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

GenotypeDepth
all individuals: 8448
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5975
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1249
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29075
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11515
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.171e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.689e0

QD
type: SiteQuality
SIO_000300: 1.244e1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.35265e6

GenotypeDepth
all individuals: 697
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variant carriers: 0

GenotypeDepth
all individuals: 8498
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
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variant carriers: 0

GenotypeDepth
all individuals: 1249
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1999
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 203
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
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variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29076
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11746
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3969
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

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: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.385999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

FS
type: SiteQuality
SIO_000300: 8.557e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e0

DP
type: SiteQuality
SIO_000300: 2.355528e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.73e1

GenotypeDepth
all individuals: 203
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1999
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
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variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5977
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variant carriers: 1

GenotypeDepth
all individuals: 4358
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 442
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variant carriers: 0

GenotypeDepth
all individuals: 216
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variant carriers: 0

GenotypeDepth
all individuals: 2951
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 697
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variant carriers: 0

GenotypeDepth
all individuals: 1249
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29078
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variant carriers: 2

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11738
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3