5-72168485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168485
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168485
    reference: chr 5
allele count: 1
allele frequency: 8.36372152152822e-6
allele num: 119564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.375G>A
  hgvsp: ENST00000520850.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000506528
  gene symbol: TNPO1
  hgvsc: ENST00000506528.1:n.360G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.466G>A
  hgvsp: ENSP00000398524.1:p.Val156Ile
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.351G>A
  hgvsp: ENST00000447967.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.592G>A
  hgvsp: ENSP00000425118.2:p.Val198Ile
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.163G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.466G>A
  hgvsp: ENSP00000428899.1:p.Val156Ile
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.616G>A
  hgvsp: ENSP00000336712.5:p.Val206Ile
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val206Ile
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-72168499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168499
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168499
    reference: chr 5
allele count: 3
allele frequency: 2.502502502502503e-5
allele num: 119880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.365C>T
  hgvsp: ENSP00000415164.2:p.Ser122Leu
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.389C>T
  hgvsp: ENSP00000430312.1:p.Ser130Leu
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.480C>T
  hgvsp: ENST00000523768.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.606C>T
  hgvsp: ENST00000506351.2:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.630C>T
  hgvsp: ENST00000337273.5:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.5C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.480C>T
  hgvsp: ENST00000454282.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.177C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000506528
  gene symbol: TNPO1
  hgvsc: ENST00000506528.1:n.374C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser130Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-72168520-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168520
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168520
    reference: chr 5
allele count: 3
allele frequency: 2.511469041958276e-5
allele num: 119452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.501A>G
  hgvsp: ENST00000523768.1:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.627A>G
  hgvsp: ENST00000506351.2:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000506528
  gene symbol: TNPO1
  hgvsc: ENST00000506528.1:n.395A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.386A>G
  hgvsp: ENST00000447967.2:c.386A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.198A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.501A>G
  hgvsp: ENST00000454282.1:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.410A>G
  hgvsp: ENST00000520850.1:c.410A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.651A>G
  hgvsp: ENST00000337273.5:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.26A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: false
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ter137Ter
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

5-72168526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168526
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168526
    reference: chr 5
allele count: 1
allele frequency: 8.390810384466932e-6
allele num: 119178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000506528
  gene symbol: TNPO1
  hgvsc: ENST00000506528.1:n.401G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.507G>A
  hgvsp: ENST00000454282.1:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.32G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.633G>A
  hgvsp: ENST00000506351.2:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.507G>A
  hgvsp: ENST00000523768.1:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.204G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*5G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.657G>A
  hgvsp: ENST00000337273.5:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu219Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-72168537-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168537
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168537
    reference: chr 5
allele count: 2
allele frequency: 1.689446030646551e-5
allele num: 118382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.668C>G
  hgvsp: ENSP00000336712.5:p.Ser223Cys
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*16C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*16C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.518C>G
  hgvsp: ENSP00000428899.1:p.Ser173Cys
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.518C>G
  hgvsp: ENSP00000398524.1:p.Ser173Cys
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.215C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.43C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000506528
  gene symbol: TNPO1
  hgvsc: ENST00000506528.1:n.412C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.644C>G
  hgvsp: ENSP00000425118.2:p.Ser215Cys
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37936
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser223Cys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

5-72168542-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168542
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168542
    reference: chr 5
allele count: 7
allele frequency: 5.931901767706727e-5
allele num: 118006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.523A>T
  hgvsp: ENSP00000398524.1:p.Ile175Phe
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000506528
  gene symbol: TNPO1
  hgvsc: ENST00000506528.1:n.417A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.220A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.673A>T
  hgvsp: ENSP00000336712.5:p.Ile225Phe
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*21A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.48A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*21A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.523A>T
  hgvsp: ENSP00000428899.1:p.Ile175Phe
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.649A>T
  hgvsp: ENSP00000425118.2:p.Ile217Phe
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36098
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile225Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-72168560-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168560
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168560
    reference: chr 5
allele count: 1
allele frequency: 8.612077577594818e-6
allele num: 116116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.225+13C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.528+13C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.678+13C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.654+13C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*26+13C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.528+13C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.53+13C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*26+13C>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-72168578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168578
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168578
    reference: chr 5
allele count: 308
allele frequency: 2.825221523051239e-3
allele num: 109018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.225+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*26+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.678+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*26+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.528+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.654+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.53+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.528+31C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 13963
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5581
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 4
num of homozygotes: 4
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

5-72168582-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168582
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168582
    reference: chr 5
allele count: 1
allele frequency: 9.498299804335023e-6
allele num: 105282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.225+35A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.678+35A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*26+35A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*26+35A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.53+35A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.654+35A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.528+35A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.528+35A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-72168584-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168584
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168585
    reference: chr 5
allele count: 4231
allele frequency: 9.027866683736611e-2
allele num: 46866
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.225+48dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.53+48dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.528+48dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.678+48dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*26+48dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.528+48dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*26+48dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.654+48dupT
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.75e1
  variant carriers: 734
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 2.25e1
  variant carriers: 1331
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 1.75e1
  variant carriers: 1557
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.25e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 1.25e1
  variant carriers: 935
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 7.5e0
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 364
genotype quality: GenotypeQuality
  all individuals: 26158
  bin: 2.5e0
  variant carriers: 193
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 9.75e1
  variant carriers: 421
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 395
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 1.75e1
  variant carriers: 314
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 2.25e1
  variant carriers: 466
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-72168584-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168584
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168583
    reference: chr 5
allele count: 4383
allele frequency: 9.352195621559339e-2
allele num: 46866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.528+48delT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*26+48delT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.654+48delT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.678+48delT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.53+48delT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.528+48delT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.225+48delT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*26+48delT
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 1.25e1
  variant carriers: 919
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 1.75e1
  variant carriers: 1403
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 7.5e0
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.75e1
  variant carriers: 758
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 2.25e1
  variant carriers: 1208
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 4.25e1
  variant carriers: 434
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 2.75e1
  variant carriers: 368
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 241
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 3.75e1
  variant carriers: 455
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 322
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 3.25e1
  variant carriers: 379
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.75e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 1.75e1
  variant carriers: 275
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: CT
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-72168584-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168584
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168586
    reference: chr 5
allele count: 24
allele frequency: 5.120983228779926e-4
allele num: 46866
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.654+47_654+48dupTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*26+47_*26+48dupTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.678+47_678+48dupTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.528+47_528+48dupTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.528+47_528+48dupTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.53+47_53+48dupTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.225+47_225+48dupTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*26+47_*26+48dupTT
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.5e0
  variant carriers: 7
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

5-72168596-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72168596
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72168593
    reference: chr 5
allele count: 2
allele frequency: 2.10508588750421e-5
allele num: 95008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.654+52_654+54delAAG
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.678+52_678+54delAAG
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.528+52_528+54delAAG
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.528+52_528+54delAAG
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.53+52_53+54delAAG
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.225+52_225+54delAAG
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*26+52_*26+54delAAG
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*26+52_*26+54delAAG
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16047
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GAGA
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-72171391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171391
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171391
    reference: chr 5
allele count: 2
allele frequency: 1.670564650851988e-5
allele num: 119720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-51C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1664C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-51C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-51C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-51C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-51C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-51C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-51C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-72171396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171396
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171396
    reference: chr 5
allele count: 2
allele frequency: 1.668696914579405e-5
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1659G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-46G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-46G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-46G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-46G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-46G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-46G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-46G>A
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15682
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-72171405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171405
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171405
    reference: chr 5
allele count: 2
allele frequency: 1.666500016665e-5
allele num: 120012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-37T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-37T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-37T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-37T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1650T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-37T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-37T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-37T>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

5-72171407-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171407
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171407
    reference: chr 5
allele count: 1
allele frequency: 8.330417687142833e-6
allele num: 120042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-35T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-35T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-35T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-35T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-35T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-35T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1648T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-35T>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

5-72171408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171408
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171408
    reference: chr 5
allele count: 1
allele frequency: 8.332222370350619e-6
allele num: 120016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-34C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-34C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-34C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-34C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-34C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-34C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-34C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1647C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

5-72171412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171412
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171412
    reference: chr 5
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-30A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-30A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-30A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1643A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-30A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-30A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-30A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-30A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15787
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-72171417-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171417
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171416
    reference: chr 5
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-19delA
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1632delA
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-19delA
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-19delA
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-19delA
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-19delA
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-19delA
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-19delA
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: GA
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-72171421-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171421
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171421
    reference: chr 5
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-21A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-21A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-21A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-21A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-21A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-21A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-21A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1634A>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-72171424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171424
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171424
    reference: chr 5
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-18T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-18T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-18T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1631T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-18T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-18T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-18T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-18T>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15823
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

5-72171433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171433
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171433
    reference: chr 5
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-9G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-9G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1622G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-9G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-9G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-9G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-9G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-9G>A
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

5-72171435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171435
    reference: chr 5
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.529-7G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.679-7G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.655-7G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1620G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.226-7G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*27-7G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.529-7G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*27-7G>A
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: c.679-7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

5-72171447-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171447
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171447
    reference: chr 5
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*32C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.684C>G
  hgvsp: ENST00000337273.5:c.684C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1608C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.534C>G
  hgvsp: ENST00000523768.1:c.534C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.660C>G
  hgvsp: ENST00000506351.2:c.660C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.534C>G
  hgvsp: ENST00000454282.1:c.534C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*32C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.231C>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15869
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu228Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

5-72171453-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171453
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171453
    reference: chr 5
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.237A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1602A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.540A>G
  hgvsp: ENST00000523768.1:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.540A>G
  hgvsp: ENST00000454282.1:c.540A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*38A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.666A>G
  hgvsp: ENST00000506351.2:c.666A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.690A>G
  hgvsp: ENST00000337273.5:c.690A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala230Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-72171482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171482
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171482
    reference: chr 5
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.266G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*67G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1573G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.569G>A
  hgvsp: ENSP00000398524.1:p.Arg190Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.695G>A
  hgvsp: ENSP00000425118.2:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.569G>A
  hgvsp: ENSP00000428899.1:p.Arg190Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.719G>A
  hgvsp: ENSP00000336712.5:p.Arg240Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg240Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

5-72171492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171492
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171492
    reference: chr 5
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*77G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.276G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.579G>A
  hgvsp: ENST00000523768.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.729G>A
  hgvsp: ENST00000337273.5:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.579G>A
  hgvsp: ENST00000454282.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.705G>A
  hgvsp: ENST00000506351.2:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*77G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1563G>A
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val243Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

5-72171497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171497
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171497
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.584G>A
  hgvsp: ENSP00000428899.1:p.Arg195Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*82G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.281G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.584G>A
  hgvsp: ENSP00000398524.1:p.Arg195Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*82G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.734G>A
  hgvsp: ENSP00000336712.5:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.710G>A
  hgvsp: ENSP00000425118.2:p.Arg237Gln
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1558G>A
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg245Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

5-72171501-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171501
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171501
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.714A>G
  hgvsp: ENST00000506351.2:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.738A>G
  hgvsp: ENST00000337273.5:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*86A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.588A>G
  hgvsp: ENST00000454282.1:c.588A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1554A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.285A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*86A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.588A>G
  hgvsp: ENST00000523768.1:c.588A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6565
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala246Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-72171510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171510
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171510
    reference: chr 5
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.294G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.747G>A
  hgvsp: ENSP00000336712.5:p.Met249Ile
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.597G>A
  hgvsp: ENSP00000398524.1:p.Met199Ile
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1545G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*95G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.597G>A
  hgvsp: ENSP00000428899.1:p.Met199Ile
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.723G>A
  hgvsp: ENSP00000425118.2:p.Met241Ile
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met249Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

5-72171537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171537
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171537
    reference: chr 5
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1518G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.774G>A
  hgvsp: ENST00000337273.5:c.774G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*122G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.624G>A
  hgvsp: ENST00000454282.1:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.321G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.750G>A
  hgvsp: ENST00000506351.2:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*122G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.624G>A
  hgvsp: ENST00000523768.1:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu258Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-72171547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171547
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171547
    reference: chr 5
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.634A>G
  hgvsp: ENSP00000398524.1:p.Met212Val
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.784A>G
  hgvsp: ENSP00000336712.5:p.Met262Val
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*132A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.634A>G
  hgvsp: ENSP00000428899.1:p.Met212Val
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.760A>G
  hgvsp: ENSP00000425118.2:p.Met254Val
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.331A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1508A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*132A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met262Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

5-72171550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171550
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171550
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.637C>T
  hgvsp: ENSP00000398524.1:p.His213Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.787C>T
  hgvsp: ENSP00000336712.5:p.His263Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.763C>T
  hgvsp: ENSP00000425118.2:p.His255Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.637C>T
  hgvsp: ENSP00000428899.1:p.His213Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1505C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*135C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.334C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15886
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His263Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-72171553-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171553
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171553
    reference: chr 5
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*138A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.337A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.640A>T
  hgvsp: ENSP00000428899.1:p.Asn214Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.790A>T
  hgvsp: ENSP00000336712.5:p.Asn264Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1502A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.640A>T
  hgvsp: ENSP00000398524.1:p.Asn214Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.766A>T
  hgvsp: ENSP00000425118.2:p.Asn256Tyr
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*138A>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6517
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn264Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-72171561-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171561
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171561
    reference: chr 5
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.798T>G
  hgvsp: ENST00000337273.5:c.798T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*146T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.648T>G
  hgvsp: ENST00000523768.1:c.648T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*146T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1494T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.774T>G
  hgvsp: ENST00000506351.2:c.774T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.345T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.648T>G
  hgvsp: ENST00000454282.1:c.648T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val266Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/5-72171570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171570
    reference: chr 5
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+6A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+6A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+6A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+6A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1485A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+6A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+6A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+6A>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: c.801+6A>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-72171573-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171573
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171573
    reference: chr 5
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+9G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+9G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+9G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+9G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1482G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+9G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+9G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+9G>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13856
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6509
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

5-72171574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171574
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171574
    reference: chr 5
allele count: 7
allele frequency: 5.775291652228438e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1481G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+10G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+10G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+10G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+10G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+10G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+10G>A
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+10G>A
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

5-72171576-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171576
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171576
    reference: chr 5
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+12A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+12A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+12A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1479A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+12A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+12A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+12A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+12A>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5304
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

5-72171577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171577
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171577
    reference: chr 5
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+13A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+13A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+13A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+13A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1478A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+13A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+13A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+13A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-72171582-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171582
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171582
    reference: chr 5
allele count: 10
allele frequency: 8.252595441266278e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1473A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+18A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+18A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+18A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+18A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+18A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+18A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+18A>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15900
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

5-72171591-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171591
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171591
    reference: chr 5
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+27T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+27T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+27T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+27T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+27T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1464T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+27T>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+27T>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

5-72171595-C-CATCTTTCCCCTAAGAGAAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171595
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171615
    reference: chr 5
allele count: 2
allele frequency: 1.651773178507128e-5
allele num: 121082
alternate allele: CATCTTTCCCCTAAGAGAAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-72171595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171595
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171595
    reference: chr 5
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1460C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+31C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+31C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

5-72171596-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171596
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171596
    reference: chr 5
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+32A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1459A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+32A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+32A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+32A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+32A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+32A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+32A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15900
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

5-72171596-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171596
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171596
    reference: chr 5
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+32A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+32A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+32A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+32A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+32A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+32A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+32A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1459A>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

5-72171598-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171598
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171595
    reference: chr 5
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1456_54-1454delTTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+35_*149+37delTTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+35_777+37delTTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+35_*149+37delTTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+35_651+37delTTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+35_348+37delTTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+35_801+37delTTT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+35_651+37delTTT
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5272
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: CTTT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-72171605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72171605
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72171605
    reference: chr 5
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.651+41C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*149+41C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.777+41C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.651+41C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.348+41C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*149+41C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.801+41C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-1450C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15900
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

5-72173006-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173006
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173006
    reference: chr 5
allele count: 1
allele frequency: 8.422613031466883e-6
allele num: 118728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-49A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-49A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-49A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-49A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-49A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-49A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-49A>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-49A>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

5-72173012-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173012
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173012
    reference: chr 5
allele count: 1
allele frequency: 8.42133629764371e-6
allele num: 118746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-43G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-43G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-43G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-43G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-43G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-43G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-43G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-43G>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-72173015-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173015
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173016
    reference: chr 5
allele count: 17
allele frequency: 1.430831902501431e-4
allele num: 118812
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-35dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-35dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-35dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-35dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-35dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-35dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-35dupT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-35dupT
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13786
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9634
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16980
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-72173022-AACTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173022
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173018
    reference: chr 5
allele count: 1
allele frequency: 8.407741848694278e-6
allele num: 118938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-29_652-26delGACT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-29_778-26delGACT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-29_*150-26delGACT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-29_349-26delGACT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-29_652-26delGACT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-29_54-26delGACT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-29_*150-26delGACT
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-29_802-26delGACT
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
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: AACTG
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

5-72173030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173030
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173030
    reference: chr 5
allele count: 2
allele frequency: 1.679402132840709e-5
allele num: 119090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-25A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-25A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-25A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-25A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-25A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-25A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-25A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-25A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9639
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

5-72173039-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173039
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173039
    reference: chr 5
allele count: 2
allele frequency: 1.672828250723498e-5
allele num: 119558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-16G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-16G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-16G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-16G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-16G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-16G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-16G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-16G>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17627
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

5-72173043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173043
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173043
    reference: chr 5
allele count: 2
allele frequency: 1.669449081803005e-5
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-12T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-12T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-12T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-12T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-12T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-12T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-12T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-12T>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9656
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

5-72173045-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173045
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173045
    reference: chr 5
allele count: 3
allele frequency: 2.501792951615324e-5
allele num: 119914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-10G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-10G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-10G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-10G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-10G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-10G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-10G>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-10G>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9656
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-72173051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173051
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173051
    reference: chr 5
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-4C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-4C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-4C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-4C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-4C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-4C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-4C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-4C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: c.802-4C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-72173052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173052
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173052
    reference: chr 5
allele count: 2
allele frequency: 1.661460756296936e-5
allele num: 120376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.778-3C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.349-3C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*150-3C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.802-3C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.652-3C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.54-3C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.652-3C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*150-3C>T
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
hgvs: c.802-3C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-72173063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173063
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173063
    reference: chr 5
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*158A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.357A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.62A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.810A>G
  hgvsp: ENST00000337273.5:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.660A>G
  hgvsp: ENST00000454282.1:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.786A>G
  hgvsp: ENST00000506351.2:c.786A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*158A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.660A>G
  hgvsp: ENST00000523768.1:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu270Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

5-72173078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173078
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173078
    reference: chr 5
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.675T>C
  hgvsp: ENST00000523768.1:c.675T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.825T>C
  hgvsp: ENST00000337273.5:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.675T>C
  hgvsp: ENST00000454282.1:c.675T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*173T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.801T>C
  hgvsp: ENST00000506351.2:c.801T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.372T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*173T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.77T>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp275Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-72173080-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173080
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173080
    reference: chr 5
allele count: 4
allele frequency: 3.303218986902737e-5
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.827A>G
  hgvsp: ENSP00000336712.5:p.Gln276Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.677A>G
  hgvsp: ENSP00000398524.1:p.Gln226Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.79A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.677A>G
  hgvsp: ENSP00000428899.1:p.Gln226Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*175A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.803A>G
  hgvsp: ENSP00000425118.2:p.Gln268Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.374A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*175A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9679
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln276Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-72173081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173081
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173081
    reference: chr 5
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*176A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*176A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.678A>G
  hgvsp: ENST00000454282.1:c.678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.80A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.828A>G
  hgvsp: ENST00000337273.5:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.375A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.678A>G
  hgvsp: ENST00000523768.1:c.678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.804A>G
  hgvsp: ENST00000506351.2:c.804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln276Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-72173089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173089
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173089
    reference: chr 5
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*184A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.836A>G
  hgvsp: ENSP00000336712.5:p.Asn279Ser
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.686A>G
  hgvsp: ENSP00000398524.1:p.Asn229Ser
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.383A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.88A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.812A>G
  hgvsp: ENSP00000425118.2:p.Asn271Ser
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*184A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.686A>G
  hgvsp: ENSP00000428899.1:p.Asn229Ser
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn279Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-72173103-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173103
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173103
    reference: chr 5
allele count: 4
allele frequency: 3.300057751010643e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.397G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.102G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*198G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.700G>T
  hgvsp: ENSP00000428899.1:p.Ala234Ser
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.850G>T
  hgvsp: ENSP00000336712.5:p.Ala284Ser
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.826G>T
  hgvsp: ENSP00000425118.2:p.Ala276Ser
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*198G>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.700G>T
  hgvsp: ENSP00000398524.1:p.Ala234Ser
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9680
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7985
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala284Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-72173119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173119
    reference: chr 5
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.866T>C
  hgvsp: ENSP00000336712.5:p.Leu289Pro
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.413T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*214T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.842T>C
  hgvsp: ENSP00000425118.2:p.Leu281Pro
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.716T>C
  hgvsp: ENSP00000398524.1:p.Leu239Pro
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*214T>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.716T>C
  hgvsp: ENSP00000428899.1:p.Leu239Pro
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.118T>C
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9680
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu289Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-72173120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173120
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173120
    reference: chr 5
allele count: 3
allele frequency: 2.474553343121567e-5
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*215A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*215A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.119A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.867A>G
  hgvsp: ENST00000337273.5:c.867A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.717A>G
  hgvsp: ENST00000523768.1:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.843A>G
  hgvsp: ENST00000506351.2:c.843A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.414A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.717A>G
  hgvsp: ENST00000454282.1:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9684
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu289Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-72173132-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173132
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173132
    reference: chr 5
allele count: 87
allele frequency: 7.259437268448983e-4
allele num: 119844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*227A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*227A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.426A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.729A>C
  hgvsp: ENSP00000398524.1:p.Glu243Asp
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.131A>C
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.855A>C
  hgvsp: ENSP00000425118.2:p.Glu285Asp
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.879A>C
  hgvsp: ENSP00000336712.5:p.Glu293Asp
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.729A>C
  hgvsp: ENSP00000428899.1:p.Glu243Asp
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16873
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9975
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 3
hgvs: p.Glu293Asp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

5-72173137-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173137
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173137
    reference: chr 5
allele count: 14
allele frequency: 1.154486830603797e-4
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.734C>G
  hgvsp: ENSP00000398524.1:p.Pro245Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.734C>G
  hgvsp: ENSP00000428899.1:p.Pro245Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.884C>G
  hgvsp: ENSP00000336712.5:p.Pro295Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*232C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.431C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.860C>G
  hgvsp: ENSP00000425118.2:p.Pro287Arg
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.136C>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*232C>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17038
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro295Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-72173149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173149
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173149
    reference: chr 5
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.443A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.896A>G
  hgvsp: ENSP00000336712.5:p.Asp299Gly
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*244A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.872A>G
  hgvsp: ENSP00000425118.2:p.Asp291Gly
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.746A>G
  hgvsp: ENSP00000428899.1:p.Asp249Gly
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.746A>G
  hgvsp: ENSP00000398524.1:p.Asp249Gly
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.148A>G
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*244A>G
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp299Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

5-72173156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72173156
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 72173156
    reference: chr 5
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000415164
  ensembl transcript: ENST00000447967
  gene symbol: TNPO1
  hgvsc: ENST00000447967.2:c.*251C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000398524
  ensembl transcript: ENST00000454282
  gene symbol: TNPO1
  hgvsc: ENST00000454282.1:c.753C>T
  hgvsp: ENST00000454282.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000508762
  gene symbol: TNPO1
  hgvsc: ENST00000508762.1:n.450C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000430312
  ensembl transcript: ENST00000520850
  gene symbol: TNPO1
  hgvsc: ENST00000520850.1:c.*251C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000425118
  ensembl transcript: ENST00000506351
  gene symbol: TNPO1
  hgvsc: ENST00000506351.2:c.879C>T
  hgvsp: ENST00000506351.2:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000336712
  ensembl transcript: ENST00000337273
  gene symbol: TNPO1
  hgvsc: ENST00000337273.5:c.903C>T
  hgvsp: ENST00000337273.5:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000083312
  ensembl transcript: ENST00000505082
  gene symbol: TNPO1
  hgvsc: ENST00000505082.1:n.155C>T
  variant of: http://identifiers.org/hgnc/6401
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000083312
  ensembl protein: ENSP00000428899
  ensembl transcript: ENST00000523768
  gene symbol: TNPO1
  hgvsc: ENST00000523768.1:c.753C>T
  hgvsp: ENST00000523768.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6401
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu301Leu
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.467e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.68699e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.549866537248241e-5
allele num: 65936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 8.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.427e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

DP
type: SiteQuality
SIO_000300: 1.690948e6

VQSLOD
type: SiteQuality
SIO_000300: -1.933e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.101e0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.566766120684406e-5
allele num: 65692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.683579e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.195019204559534e-5
allele num: 16142
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.252e0

DP
type: SiteQuality
SIO_000300: 1.677788e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 394
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.9147332936744e-5
allele num: 10086
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.144e1

FS
type: SiteQuality
SIO_000300: 1.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.651956e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
all individuals: 901
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.081181267762264e-4
allele num: 64744
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.631015e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.48e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574356875216474e-5
allele num: 63518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.75e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.815935657567393e-5
allele num: 58686
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.249039200614912e-3
allele num: 10408
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6236
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African
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allele count: 290
allele frequency: 3.022722534917657e-2
allele num: 9594
num of homozygotes: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.448069e6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.781515000356303e-5
allele num: 56132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.015e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.651e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 268

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 60

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 156

GenotypeQuality
all individuals: 3999
bin: 7.5e0
variant carriers: 205

GenotypeQuality
all individuals: 463
bin: 7.75e1
variant carriers: 143

GenotypeQuality
all individuals: 1540
bin: 4.25e1
variant carriers: 428

GenotypeQuality
all individuals: 708
bin: 6.75e1
variant carriers: 152

GenotypeQuality
all individuals: 2175
bin: 3.75e1
variant carriers: 435

Other
type: Population
allele count: 37
allele frequency: 9.203980099502487e-2
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1673
allele frequency: 6.732394366197184e-2
allele num: 24850
num of homozygotes: 0

South Asian
type: Population
allele count: 1459
allele frequency: 2.137415763258131e-1
allele num: 6826
num of homozygotes: 0

Latino
type: Population
allele count: 367
allele frequency: 1.059468822170901e-1
allele num: 3464
num of homozygotes: 0

East Asian
type: Population
allele count: 237
allele frequency: 7.40625e-2
allele num: 3200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 67
allele frequency: 2.120253164556962e-2
allele num: 3160
num of homozygotes: 0

African
type: Population
allele count: 391
allele frequency: 7.876712328767123e-2
allele num: 4964
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.923e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.456013e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

QD
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 3999
bin: 7.5e0
variant carriers: 319

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 72

GenotypeQuality
all individuals: 1226
bin: 4.75e1
variant carriers: 343

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 58

GenotypeQuality
all individuals: 2755
bin: 1.25e1
variant carriers: 233

GenotypeQuality
all individuals: 26158
bin: 2.5e0
variant carriers: 204

GenotypeQuality
all individuals: 511
bin: 7.25e1
variant carriers: 107

GenotypeQuality
all individuals: 5909
bin: 2.25e1
variant carriers: 341

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 64

GenotypeQuality
all individuals: 817
bin: 5.75e1
variant carriers: 310

GenotypeQuality
all individuals: 708
bin: 6.75e1
variant carriers: 158

GenotypeQuality
all individuals: 2393
bin: 9.75e1
variant carriers: 803

European (Non-Finnish)
type: Population
allele count: 2301
allele frequency: 9.259557344064387e-2
allele num: 24850
num of homozygotes: 0

East Asian
type: Population
allele count: 294
allele frequency: 9.1875e-2
allele num: 3200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 105
allele frequency: 3.322784810126582e-2
allele num: 3160
num of homozygotes: 0

African
type: Population
allele count: 353
allele frequency: 7.111200644641419e-2
allele num: 4964
num of homozygotes: 0

Other
type: Population
allele count: 25
allele frequency: 6.218905472636816e-2
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 934
allele frequency: 1.368297685320832e-1
allele num: 6826
num of homozygotes: 0

Latino
type: Population
allele count: 371
allele frequency: 1.071016166281755e-1
allele num: 3464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 1.456013e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.923e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26158
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1044
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1540
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1226
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 463
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2393
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 2.01450443190975e-4
allele num: 4964
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 2.05098154116613e-3
allele num: 6826
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.886836027713626e-4
allele num: 3464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.816901408450704e-4
allele num: 24850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.487562189054726e-3
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.923e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

DP
type: SiteQuality
SIO_000300: 1.456013e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

QD
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5579
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 991
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.183e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

MQ
type: SiteQuality
SIO_000300: 5.645e1

DP
type: SiteQuality
SIO_000300: 1.351481e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.549e1

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15672
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736111111111111e-4
allele num: 11520
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.886335e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 2256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4819
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.349072116513977e-4
allele num: 8514
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.378e0

VQSLOD
type: SiteQuality
SIO_000300: -1.896e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 3.475e0

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.399e0

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 1.894624e6

GenotypeQuality
all individuals: 1316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14459
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15754
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029017992366875e-5
allele num: 66028
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: 16146
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.925425e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.481e0

QD
type: SiteQuality
SIO_000300: 1.715e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 3.409e0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 467
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5041
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 16146
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.533e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.221e1

DP
type: SiteQuality
SIO_000300: 1.931515e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 596
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
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variant carriers: 0

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

GenotypeQuality
all individuals: 3161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2351
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66040
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: 16128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 1.935357e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 2.293e0

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.049e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -1.114e0

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

GenotypeQuality
all individuals: 374
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 8.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512584704743466e-5
allele num: 66112
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.225e1

DP
type: SiteQuality
SIO_000300: 1.94779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

DP
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FS
type: SiteQuality
SIO_000300: 1.111e0

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.131e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

FS
type: SiteQuality
SIO_000300: 1.299e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.969219e6

QD
type: SiteQuality
SIO_000300: 1.501e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
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: 904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01295570955107e-5
allele num: 66380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.972554e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.57e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 3.766e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

FS
type: SiteQuality
SIO_000300: 7.928e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

QD
type: SiteQuality
SIO_000300: 9.76e0

DP
type: SiteQuality
SIO_000300: 1.981275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.94e0

FS
type: SiteQuality
SIO_000300: 3.045e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
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SIO_000300: 1.41e-2

BaseQRankSum
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SIO_000300: -3.558e0

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.193e0

DP
type: SiteQuality
SIO_000300: 1.982714e6

VQSLOD
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.986094e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

BaseQRankSum
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SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 1.0474e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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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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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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South Asian
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East Asian
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Latino
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QD
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ClippingRankSum
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MQ
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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allele num: 66708
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Latino
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East Asian
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European (Finnish)
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Other
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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South Asian
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African
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Latino
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ClippingRankSum
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MQ
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MQRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Other
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InbreedingCoeff
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QD
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DP
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VQSLOD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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African
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East Asian
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

African
type: Population
allele count: 3
allele frequency: 2.888503755054881e-4
allele num: 10386
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

VQSLOD
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SIO_000300: 1.78e0

QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 3.487e0

InbreedingCoeff
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SIO_000300: 3.0e-4

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

African
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allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.7e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.247572815533981e-4
allele num: 16480
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.684e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.105e0

QD
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MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

FS
type: SiteQuality
SIO_000300: 5.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.046e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.516e-1

DP
type: SiteQuality
SIO_000300: 1.982539e6

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 7.57e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.897e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

BaseQRankSum
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SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 1.982338e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.44e-1

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

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

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

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

East Asian
type: Population
allele count: 10
allele frequency: 1.158211721102618e-3
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: 6612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.981818e6

ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

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

South Asian
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allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
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MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.977172e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.316423442205235e-4
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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

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

Other
type: Population
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East Asian
type: Population
allele count: 0
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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 1.975331e6

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.653e0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
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SIO_000300: 1.273e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

East Asian
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allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
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: 16424
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.598e0

MQ
type: SiteQuality
SIO_000300: 5.742e1

MQRankSum
type: SiteQuality
SIO_000300: -2.459e0

FS
type: SiteQuality
SIO_000300: 2.709e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
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SIO_000300: -5.203e0

DP
type: SiteQuality
SIO_000300: 1.9738e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.749e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.057e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 1.969803e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.694e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2310
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15246
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.969e0

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.819e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 1.810518e6

VQSLOD
type: SiteQuality
SIO_000300: -4.136e0

QD
type: SiteQuality
SIO_000300: 7.98e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2993
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521653123953863e-5
allele num: 65718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.796e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 6.44e0

FS
type: SiteQuality
SIO_000300: 2.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

DP
type: SiteQuality
SIO_000300: 1.823237e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.166316771635176e-3
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.844535359438924e-4
allele num: 10266
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

FS
type: SiteQuality
SIO_000300: 1.794e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.830473e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.520034048762692e-5
allele num: 65788
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.195e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.846073e6

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 4.813e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03692905733722e-5
allele num: 65856
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East Asian
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African
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allele frequency: 0.0e0
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South Asian
type: Population
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.738828029907842e-4
allele num: 11502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.139e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.892087e6

VQSLOD
type: SiteQuality
SIO_000300: -6.129e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 7.859e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7657
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024711896191888e-5
allele num: 66122
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 1.238e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.90011e6

MQ
type: SiteQuality
SIO_000300: 5.854e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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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: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.900899759219364e-4
allele num: 15782
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.904126e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.77e1

QD
type: SiteQuality
SIO_000300: 1.589e1

VQSLOD
type: SiteQuality
SIO_000300: -1.526e0

FS
type: SiteQuality
SIO_000300: 6.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.762e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

DP
type: SiteQuality
SIO_000300: 1.915221e6

FS
type: SiteQuality
SIO_000300: 1.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.388e1

GenotypeQuality
all individuals: 18
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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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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.930874686232864e-4
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.439e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.826e1

DP
type: SiteQuality
SIO_000300: 1.917581e6

FS
type: SiteQuality
SIO_000300: 1.686e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: -1.618e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
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: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.92791e6

FS
type: SiteQuality
SIO_000300: 1.219e0

VQSLOD
type: SiteQuality
SIO_000300: -7.927e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 6.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.518e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 1.933726e6

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

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

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

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

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

South Asian
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allele count: 2
allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003453972067878e-5
allele num: 66590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.744e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.934338e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

East Asian
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allele num: 8640
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.603e1

FS
type: SiteQuality
SIO_000300: 1.072e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -1.841e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.584e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.95e-1

FS
type: SiteQuality
SIO_000300: 2.654e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.562e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

DP
type: SiteQuality
SIO_000300: 1.935657e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.002400960384154e-5
allele num: 66640
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

DP
type: SiteQuality
SIO_000300: 1.937653e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.026e0

QD
type: SiteQuality
SIO_000300: 1.359e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.388e0

MQ
type: SiteQuality
SIO_000300: 5.743e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
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GenotypeQuality
all individuals: 3254
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.646e0

DP
type: SiteQuality
SIO_000300: 1.938616e6

QD
type: SiteQuality
SIO_000300: 1.376e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.771e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.546e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7984
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500720115218435e-5
allele num: 66656
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.938671e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.381e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.775e1

VQSLOD
type: SiteQuality
SIO_000300: -1.489e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 1589
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 215
bin: 2.25e1
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

GenotypeQuality
all individuals: 3327
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variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 7

Latino
type: Population
allele count: 4
allele frequency: 3.469210754553339e-4
allele num: 11530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 7.890264627336732e-4
allele num: 65904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.711323763955343e-3
allele num: 6270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.135750813575082e-4
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.874877234335101e-4
allele num: 10182
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.972163e6

QD
type: SiteQuality
SIO_000300: 7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.379e0

MQ
type: SiteQuality
SIO_000300: 5.694e1

FS
type: SiteQuality
SIO_000300: 2.0839e2

VQSLOD
type: SiteQuality
SIO_000300: -2.036e2

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3417
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.347190146266359e-3
allele num: 10392
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.375e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

FS
type: SiteQuality
SIO_000300: 2.429e0

DP
type: SiteQuality
SIO_000300: 1.955554e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.136e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.918e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.345e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 1.954643e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0