16-89818500-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818500
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818500
    reference: chr 16
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+46C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+46C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+46C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+46C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+46C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2190C>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50071
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

16-89818502-TTAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818502
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818498
    reference: chr 16
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+40_3066+43delTTTA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2196_319-2193delTTTA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+40_3066+43delTTTA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+40_309+43delTTTA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+40_443+43delTTTA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+40_*302+43delTTTA
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: TTAAA
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-89818524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818524
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818524
    reference: chr 16
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+22C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+22C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+22C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2214C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+22C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+22C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-89818525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818525
    reference: chr 16
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2215A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+21A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+21A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+21A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+21A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+21A>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

16-89818525-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818525
    reference: chr 16
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+21A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+21A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+21A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+21A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+21A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2215A>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-89818529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818529
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818529
    reference: chr 16
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+17C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+17C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+17C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+17C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2219C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+17C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

16-89818530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818530
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818530
    reference: chr 16
allele count: 34
allele frequency: 2.801812937783271e-4
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+16C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+16C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+16C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+16C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+16C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2220C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50069
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

16-89818534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818534
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818534
    reference: chr 16
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+12G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+12G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+12G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+12G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2224G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+12G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-89818545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818545
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818545
    reference: chr 16
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.443+1G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.309+1G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3066+1G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*302+1G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2235G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3066+1G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: c.3066+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

16-89818553-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818553
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818553
    reference: chr 16
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3059G>C
  hgvsp: ENSP00000456829.1:p.Arg1020Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.436G>C
  hgvsp: ENSP00000456588.1:p.Arg146Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2243G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*295G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3059G>C
  hgvsp: ENSP00000373952.3:p.Arg1020Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.302G>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1020Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

16-89818554-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818554
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818553
    reference: chr 16
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2245delC
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.434delC
  hgvsp: ENSP00000456588.1:p.Arg146AspfsTer?
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.300delC
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3057delC
  hgvsp: ENSP00000456829.1:p.Arg1020AspfsTer6
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3057delC
  hgvsp: ENSP00000373952.3:p.Arg1020AspfsTer6
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*293delC
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1020AspfsTer6
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: TG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

16-89818556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818556
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818556
    reference: chr 16
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.433C>G
  hgvsp: ENSP00000456588.1:p.Ser145Cys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3056C>G
  hgvsp: ENSP00000373952.3:p.Ser1019Cys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*292C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3056C>G
  hgvsp: ENSP00000456829.1:p.Ser1019Cys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.299C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2246C>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1019Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

16-89818567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818567
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818567
    reference: chr 16
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2257G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*281G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3045G>C
  hgvsp: ENSP00000373952.3:p.Glu1015Asp
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.288G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.422G>C
  hgvsp: ENSP00000456588.1:p.Glu141Asp
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3045G>C
  hgvsp: ENSP00000456829.1:p.Glu1015Asp
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu1015Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-89818580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818580
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818580
    reference: chr 16
allele count: 4
allele frequency: 3.296685183048445e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*268G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3032G>A
  hgvsp: ENSP00000373952.3:p.Arg1011His
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.409G>A
  hgvsp: ENSP00000456588.1:p.Arg137His
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2270G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3032G>A
  hgvsp: ENSP00000456829.1:p.Arg1011His
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*362G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.275G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50063
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1011His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-89818581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818581
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818581
    reference: chr 16
allele count: 16
allele frequency: 1.318674073219378e-4
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.274C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3031C>T
  hgvsp: ENSP00000373952.3:p.Arg1011Cys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*361C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3031C>T
  hgvsp: ENSP00000456829.1:p.Arg1011Cys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.408C>T
  hgvsp: ENSP00000456588.1:p.Arg137Cys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2271C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50063
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1011Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/16-89818583-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818583
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818583
    reference: chr 16
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3029G>T
  hgvsp: ENSP00000373952.3:p.Gly1010Val
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*359G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.406G>T
  hgvsp: ENSP00000456588.1:p.Gly136Val
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*265G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2273G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.272G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3029G>T
  hgvsp: ENSP00000456829.1:p.Gly1010Val
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1010Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-89818583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818583
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818583
    reference: chr 16
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2273G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3029G>A
  hgvsp: ENSP00000373952.3:p.Gly1010Asp
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3029G>A
  hgvsp: ENSP00000456829.1:p.Gly1010Asp
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.272G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.406G>A
  hgvsp: ENSP00000456588.1:p.Gly136Asp
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1010Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-89818586-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818586
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818586
    reference: chr 16
allele count: 5
allele frequency: 4.121128200056047e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.403G>C
  hgvsp: ENSP00000456588.1:p.Gly135Ala
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2276G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3026G>C
  hgvsp: ENSP00000456829.1:p.Gly1009Ala
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*262G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3026G>C
  hgvsp: ENSP00000373952.3:p.Gly1009Ala
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.269G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*356G>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50063
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Gly1009Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

16-89818586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818586
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818586
    reference: chr 16
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2276G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*356G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.403G>A
  hgvsp: ENSP00000456588.1:p.Gly135Asp
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3026G>A
  hgvsp: ENSP00000373952.3:p.Gly1009Asp
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3026G>A
  hgvsp: ENSP00000456829.1:p.Gly1009Asp
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*262G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.269G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1009Asp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

16-89818599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818599
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818599
    reference: chr 16
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2289G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*343G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3013G>A
  hgvsp: ENSP00000456829.1:p.Asp1005Asn
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3013G>A
  hgvsp: ENSP00000373952.3:p.Asp1005Asn
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*249G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.390G>A
  hgvsp: ENSP00000456588.1:p.Asp131Asn
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.256G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50062
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1005Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-89818604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818604
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818604
    reference: chr 16
allele count: 11
allele frequency: 9.070070416728508e-5
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.385A>G
  hgvsp: ENSP00000456588.1:p.Asn129Ser
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.251A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2294A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3008A>G
  hgvsp: ENSP00000373952.3:p.Asn1003Ser
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*244A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3008A>G
  hgvsp: ENSP00000456829.1:p.Asn1003Ser
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*338A>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50062
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn1003Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-89818608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818608
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818608
    reference: chr 16
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2298G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3004G>A
  hgvsp: ENSP00000373952.3:p.Glu1002Lys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3004G>A
  hgvsp: ENSP00000456829.1:p.Glu1002Lys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.247G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.381G>A
  hgvsp: ENSP00000456588.1:p.Glu128Lys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1002Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

16-89818612-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818612
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818612
    reference: chr 16
allele count: 5
allele frequency: 4.123779361309053e-5
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*236C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.3000C>G
  hgvsp: ENSP00000373952.3:p.His1000Gln
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.377C>G
  hgvsp: ENSP00000456588.1:p.His126Gln
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*330C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.243C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2302C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.3000C>G
  hgvsp: ENSP00000456829.1:p.His1000Gln
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1000Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-89818618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818618
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818618
    reference: chr 16
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.371T>C
  hgvsp: ENST00000561660.1:c.371T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.237T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2994T>C
  hgvsp: ENST00000389301.3:c.2994T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*324T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2994T>C
  hgvsp: ENST00000568369.1:c.2994T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2308T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*230T>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr998Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

16-89818620-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818620
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818620
    reference: chr 16
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2310T>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.235T>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2992T>A
  hgvsp: ENSP00000456829.1:p.Tyr998Asn
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*228T>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*322T>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2992T>A
  hgvsp: ENSP00000373952.3:p.Tyr998Asn
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.369T>A
  hgvsp: ENSP00000456588.1:p.Tyr124Asn
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr998Asn
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-89818628-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818628
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818628
    reference: chr 16
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2984C>A
  hgvsp: ENSP00000373952.3:p.Ser995Ter
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*220C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2984C>A
  hgvsp: ENSP00000456829.1:p.Ser995Ter
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*314C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.227C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.361C>A
  hgvsp: ENSP00000456588.1:p.Ser121Ter
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2318C>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser995Ter
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-89818637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818637
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818637
    reference: chr 16
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-7A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-7A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-7A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2327A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-7A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-7A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-7A>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50059
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2982-7A>G
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-89818638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818638
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818638
    reference: chr 16
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-8C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-8C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2328C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-8C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-8C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-8C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-8C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50059
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2982-8C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-89818638-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818638
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818638
    reference: chr 16
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-8C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-8C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-8C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-8C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-8C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-8C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2328C>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2982-8C>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

16-89818645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818645
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818645
    reference: chr 16
allele count: 10
allele frequency: 8.258320257659592e-5
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-15G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-15G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-15G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-15G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-15G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2335G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-15G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

16-89818646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818646
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818646
    reference: chr 16
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-16T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-16T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-16T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-16T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-16T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-16T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2336T>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-89818647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818647
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818647
    reference: chr 16
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-17T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-17T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-17T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-17T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-17T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2337T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-17T>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

16-89818653-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818653
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818653
    reference: chr 16
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-23A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-23A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-23A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-23A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-23A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-23A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2343A>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-89818654-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818654
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818654
    reference: chr 16
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2344G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-24G>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

16-89818654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818654
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818654
    reference: chr 16
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-24G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-24G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-24G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2344G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-24G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-24G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-24G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/16-89818661-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818661
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818661
    reference: chr 16
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-31T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-31T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-31T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-31T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-31T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2351T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-31T>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

16-89818662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818662
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818662
    reference: chr 16
allele count: 2
allele frequency: 1.653329806229747e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-32C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-32C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-32C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-32C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-32C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2352C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-32C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

16-89818666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818666
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818666
    reference: chr 16
allele count: 4
allele frequency: 3.307261091726886e-5
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2356G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-36G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-89818667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818667
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818667
    reference: chr 16
allele count: 2
allele frequency: 1.654150263009892e-5
allele num: 120908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-37C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-37C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-37C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-37C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-37C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-37C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2357C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

16-89818673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818673
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818673
    reference: chr 16
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-43A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-43A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2363A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-43A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-43A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-43A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-43A>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-89818679-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89818679
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89818679
    reference: chr 16
allele count: 9
allele frequency: 7.44737190520323e-5
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.319-2369A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.225-49A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*218-49A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*312-49A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.359-49A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2982-49A>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2982-49A>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

16-89824934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824934
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824934
    reference: chr 16
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3423G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+51G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+51G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+51G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+51G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3423G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+51G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

16-89824937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824937
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824937
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3420T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+48T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+48T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3420T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+48T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+48T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+48T>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

16-89824946-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824946
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824946
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+39C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3411C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+39C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3411C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+39C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+39C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+39C>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

16-89824949-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824949
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824949
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+36G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3408G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+36G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+36G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+36G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+36G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3408G>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

16-89824949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824949
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824949
    reference: chr 16
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3408G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3408G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+36G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+36G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

16-89824950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824950
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824950
    reference: chr 16
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+35G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+35G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+35G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+35G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3407G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+35G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3407G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-89824956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824956
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824956
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3401T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+29T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+29T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+29T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+29T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3401T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+29T>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-89824960-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824960
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824960
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+25G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+25G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+25G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+25G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3397G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3397G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+25G>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-89824961-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824961
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+24G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+24G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3396G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+24G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+24G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3396G>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+24G>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

16-89824961-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824961
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824961
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3396G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3396G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+24G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+24G>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-89824964-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824964
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824964
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+21T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+21T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+21T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3393T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+21T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+21T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3393T>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-89824967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824967
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824967
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+18T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3390T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+18T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3390T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+18T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+18T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+18T>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

16-89824970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824970
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824970
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+15C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3387C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3387C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+15C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+15C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+15C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+15C>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-89824980-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824980
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824981
    reference: chr 16
allele count: 36
allele frequency: 2.965110532731526e-4
allele num: 121412
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2981+4dupA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2981+4dupA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.318+4dupA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3376dupA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.358+4dupA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*311+4dupA
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3376dupA
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48338
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2981+4dupA
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

16-89824987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824987
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824987
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3370A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2979A>G
  hgvsp: ENST00000389301.3:c.2979A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.316A>G
  hgvsp: ENST00000567988.1:c.316A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2979A>G
  hgvsp: ENST00000568369.1:c.2979A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*309A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.356A>G
  hgvsp: ENST00000561660.1:c.356A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3370A>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2979A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

16-89824988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824988
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824988
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3369A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.315A>G
  hgvsp: ENSP00000454217.1:p.Gln106Arg
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*308A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3369A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.355A>G
  hgvsp: ENSP00000456588.1:p.Gln119Arg
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2978A>G
  hgvsp: ENSP00000373952.3:p.Gln993Arg
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2978A>G
  hgvsp: ENSP00000456829.1:p.Gln993Arg
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln993Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-89824989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824989
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824989
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: stop_gained
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2977C>T
  hgvsp: ENSP00000373952.3:p.Gln993Ter
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.354C>T
  hgvsp: ENSP00000456588.1:p.Gln119Ter
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.314C>T
  hgvsp: ENSP00000454217.1:p.Gln106Ter
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: stop_gained
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2977C>T
  hgvsp: ENSP00000456829.1:p.Gln993Ter
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3368C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3368C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln993Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

16-89824989-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824989
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824989
    reference: chr 16
allele count: 42
allele frequency: 3.459295621520113e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3368C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*307C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3368C>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.354C>A
  hgvsp: ENSP00000456588.1:p.Gln119Lys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.314C>A
  hgvsp: ENSP00000454217.1:p.Gln106Lys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2977C>A
  hgvsp: ENSP00000456829.1:p.Gln993Lys
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2977C>A
  hgvsp: ENSP00000373952.3:p.Gln993Lys
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln993Lys
num of homozygotes: 1
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-89824990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89824990
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89824990
    reference: chr 16
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2976C>T
  hgvsp: ENST00000389301.3:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2976C>T
  hgvsp: ENST00000568369.1:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.313C>T
  hgvsp: ENST00000567988.1:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3367C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.353C>T
  hgvsp: ENST00000561660.1:c.353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3367C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His992His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

16-89825002-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825002
    reference: chr 16
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2964G>C
  hgvsp: ENST00000389301.3:c.2964G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3355G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.301G>C
  hgvsp: ENST00000567988.1:c.301G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2964G>C
  hgvsp: ENST00000568369.1:c.2964G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*294G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.341G>C
  hgvsp: ENST00000561660.1:c.341G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3355G>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48325
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu988Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

16-89825005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825005
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825005
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3352A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3352A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2961A>G
  hgvsp: ENST00000568369.1:c.2961A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.298A>G
  hgvsp: ENST00000567988.1:c.298A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2961A>G
  hgvsp: ENST00000389301.3:c.2961A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.338A>G
  hgvsp: ENST00000561660.1:c.338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*291A>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala987Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-89825006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825006
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825006
    reference: chr 16
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.337C>T
  hgvsp: ENSP00000456588.1:p.Ala113Val
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3351C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*290C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.297C>T
  hgvsp: ENSP00000454217.1:p.Ala100Val
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2960C>T
  hgvsp: ENSP00000456829.1:p.Ala987Val
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2960C>T
  hgvsp: ENSP00000373952.3:p.Ala987Val
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3351C>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala987Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

16-89825007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825007
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825007
    reference: chr 16
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.336G>A
  hgvsp: ENSP00000456588.1:p.Ala113Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2959G>A
  hgvsp: ENSP00000373952.3:p.Ala987Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3350G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*289G>A
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.296G>A
  hgvsp: ENSP00000454217.1:p.Ala100Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2959G>A
  hgvsp: ENSP00000456829.1:p.Ala987Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3350G>A
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48325
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Ala987Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

16-89825008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825008
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825008
    reference: chr 16
allele count: 9
allele frequency: 7.412776331828814e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2958C>T
  hgvsp: ENST00000568369.1:c.2958C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2958C>T
  hgvsp: ENST00000389301.3:c.2958C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*288C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3349C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.295C>T
  hgvsp: ENST00000567988.1:c.295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3349C>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.335C>T
  hgvsp: ENST00000561660.1:c.335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn986Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-89825011-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825011
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825011
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.332C>G
  hgvsp: ENST00000561660.1:c.332C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2955C>G
  hgvsp: ENST00000389301.3:c.2955C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*285C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3346C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2955C>G
  hgvsp: ENST00000568369.1:c.2955C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.292C>G
  hgvsp: ENST00000567988.1:c.292C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3346C>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val985Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-89825013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825013
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825013
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2953G>C
  hgvsp: ENSP00000456829.1:p.Val985Leu
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2953G>C
  hgvsp: ENSP00000373952.3:p.Val985Leu
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.290G>C
  hgvsp: ENSP00000454217.1:p.Val98Leu
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.330G>C
  hgvsp: ENSP00000456588.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*283G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3344G>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3344G>C
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val985Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/16-89825017-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825017
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825017
    reference: chr 16
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2949T>G
  hgvsp: ENSP00000456829.1:p.Ile983Met
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2949T>G
  hgvsp: ENSP00000373952.3:p.Ile983Met
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.286T>G
  hgvsp: ENSP00000454217.1:p.Ile96Met
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*279T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.326T>G
  hgvsp: ENSP00000456588.1:p.Ile109Met
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3340T>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3340T>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48320
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile983Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-89825018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825018
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825018
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2948T>C
  hgvsp: ENSP00000456829.1:p.Ile983Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.285T>C
  hgvsp: ENSP00000454217.1:p.Ile96Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*278T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3339T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3339T>C
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2948T>C
  hgvsp: ENSP00000373952.3:p.Ile983Thr
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.325T>C
  hgvsp: ENSP00000456588.1:p.Ile109Thr
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile983Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-89825019-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825019
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825019
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*277A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3338A>T
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.324A>T
  hgvsp: ENSP00000456588.1:p.Ile109Phe
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2947A>T
  hgvsp: ENSP00000373952.3:p.Ile983Phe
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.284A>T
  hgvsp: ENSP00000454217.1:p.Ile96Phe
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2947A>T
  hgvsp: ENSP00000456829.1:p.Ile983Phe
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3338A>T
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile983Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

16-89825021-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825021
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825021
    reference: chr 16
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.282C>G
  hgvsp: ENSP00000454217.1:p.Thr95Ser
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2945C>G
  hgvsp: ENSP00000373952.3:p.Thr982Ser
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3336C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3336C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2945C>G
  hgvsp: ENSP00000456829.1:p.Thr982Ser
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*275C>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.322C>G
  hgvsp: ENSP00000456588.1:p.Thr108Ser
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr982Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

16-89825022-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89825022
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89825022
    reference: chr 16
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000454217
  ensembl transcript: ENST00000567988
  gene symbol: FANCA
  hgvsc: ENST00000567988.1:c.281A>G
  hgvsp: ENSP00000454217.1:p.Thr95Ala
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000373952
  ensembl transcript: ENST00000389301
  gene symbol: FANCA
  hgvsc: ENST00000389301.3:c.2944A>G
  hgvsp: ENSP00000373952.3:p.Thr982Ala
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456588
  ensembl transcript: ENST00000561660
  gene symbol: FANCA
  hgvsc: ENST00000561660.1:c.321A>G
  hgvsp: ENSP00000456588.1:p.Thr108Ala
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456993
  ensembl transcript: ENST00000563510
  gene symbol: FANCA
  hgvsc: ENST00000563510.1:c.*217+3335A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000457970
  ensembl transcript: ENST00000563318
  gene symbol: FANCA
  hgvsc: ENST00000563318.1:c.*274A>G
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187741
  ensembl protein: ENSP00000456829
  ensembl transcript: ENST00000568369
  gene symbol: FANCA
  hgvsc: ENST00000568369.1:c.2944A>G
  hgvsp: ENSP00000456829.1:p.Thr982Ala
  variant of: http://identifiers.org/hgnc/3582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187741
  ensembl transcript: ENST00000305699
  gene symbol: FANCA
  hgvsc: ENST00000305699.11:n.224+3335A>G
  variant of: http://identifiers.org/hgnc/3582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48316
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr982Ala
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 830
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.391e0

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 4.032903e6

FS
type: SiteQuality
SIO_000300: 3.644e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.017e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.926e0

VQSLOD
type: SiteQuality
SIO_000300: -1.709e0

QD
type: SiteQuality
SIO_000300: 1.278e1

MQRankSum
type: SiteQuality
SIO_000300: -1.005e1

DP
type: SiteQuality
SIO_000300: 4.032765e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.287e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.198e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 4.034356e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.185e0

VQSLOD
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.567e1

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 4.034219e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.511e1

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

DP
type: SiteQuality
SIO_000300: 4.034219e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.511e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e0

GenotypeQuality
all individuals: 1357
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

FS
type: SiteQuality
SIO_000300: 5.664e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.276e0

DP
type: SiteQuality
SIO_000300: 4.034034e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.447e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
type: SiteQuality
SIO_000300: 1.678e1

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.69227041434456e-4
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 18
allele frequency: 2.079963022879593e-3
allele num: 8654
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.628e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
SIO_000300: 1.873e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 4.036766e6

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50065
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 4.031085e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.510999999999999e0

FS
type: SiteQuality
SIO_000300: 5.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 50065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 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: 6614
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: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 4.031192e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.384e0

QD
type: SiteQuality
SIO_000300: 1.158e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 4.031238e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.299e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.642e1

FS
type: SiteQuality
SIO_000300: 1.175e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

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

GenotypeQuality
all individuals: 1188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1359
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

DP
type: SiteQuality
SIO_000300: 4.031075e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.479e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.957e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

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

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

GenotypeQuality
all individuals: 655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.289e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
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SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

FS
type: SiteQuality
SIO_000300: 3.029e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 4.031243e6

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 4.030957e6

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.915e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.463e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 4.030699e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 14
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 11
allele frequency: 1.271382339343504e-3
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 4.031372e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 4.027039e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.278e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.487e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.027039e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496926260233305e-5
allele num: 66694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

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

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

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

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

East Asian
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.553e0

DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
all individuals: 28
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 1.0371e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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Latino
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South Asian
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European (Finnish)
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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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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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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Other
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European (Non-Finnish)
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allele num: 66646
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South Asian
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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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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East Asian
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Other
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.500915558490679e-5
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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MQ
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FS
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.5e-1

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

African
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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European (Finnish)
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allele num: 6614
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South Asian
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Other
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DP
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66592
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DP
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MQ
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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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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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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MQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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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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African
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European (Non-Finnish)
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Other
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Latino
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South Asian
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European (Finnish)
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
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East Asian
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allele frequency: 1.157675387821255e-3
allele num: 8638
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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SIO_000300: -6.1e-2

BaseQRankSum
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DP
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SIO_000300: 4.016323e6

MQRankSum
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SIO_000300: 4.51e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.77e-1

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66568
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African
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allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: 4.73e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66564
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African
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allele frequency: 0.0e0
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South Asian
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QD
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 3.64e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11540
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African
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allele frequency: 0.0e0
allele num: 10316
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East Asian
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allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66544
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South Asian
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allele frequency: 0.0e0
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Other
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allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11542
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8638
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African
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allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.019e0

MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
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SIO_000300: 4.013447e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

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

South Asian
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allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

African
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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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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allele frequency: 6.066488716330988e-5
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num of homozygotes: 0

Latino
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Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8632
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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DP
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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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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South Asian
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East Asian
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allele frequency: 3.477051460361613e-4
allele num: 8628
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European (Non-Finnish)
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allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

Latino
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Other
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African
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European (Finnish)
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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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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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.009238361770636e-5
allele num: 66462
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -5.948e0

FS
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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QD
type: SiteQuality
SIO_000300: 1.404e1

VQSLOD
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SIO_000300: 2.68e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
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: 902
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -7.0e-4

MQ
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SIO_000300: 6.0e1

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 5.463817387081107e-4
allele num: 16472
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
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MQRankSum
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FS
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QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 3.592822e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66736
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

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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variant carriers: 0

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66738
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African
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Other
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Other
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num of homozygotes: 0

Latino
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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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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 2.996793431028799e-5
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Other
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European (Finnish)
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East Asian
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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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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European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
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ReadPosRankSum
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SIO_000300: 2.28e0

VQSLOD
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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allele num: 8654
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South Asian
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allele count: 0
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Latino
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allele frequency: 0.0e0
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MQ
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QD
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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South Asian
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Other
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MQRankSum
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.384e0

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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African
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European (Non-Finnish)
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allele count: 2
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Other
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South Asian
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European (Finnish)
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East Asian
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Latino
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VQSLOD
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BaseQRankSum
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QD
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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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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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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African
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East Asian
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Other
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European (Finnish)
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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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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European (Finnish)
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Other
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African
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South Asian
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Latino
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East Asian
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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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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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 3.597585e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

FS
type: SiteQuality
SIO_000300: 5.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.235e0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 41

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 33
allele frequency: 3.171247357293869e-3
allele num: 10406
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.235e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

DP
type: SiteQuality
SIO_000300: 3.597585e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48325
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 66740
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

DP
type: SiteQuality
SIO_000300: 3.59443e6

MQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

QD
type: SiteQuality
SIO_000300: 1.102e1

FS
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

GenotypeQuality
all individuals: 927
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 3.594317e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 2.462e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 3.594104e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48325
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.594077e6

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.171e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.425e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 1618
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.229e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

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: 9

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
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: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

DP
type: SiteQuality
SIO_000300: 3.594569e6

QD
type: SiteQuality
SIO_000300: 1.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-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

South Asian
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allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.808e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

FS
type: SiteQuality
SIO_000300: 3.089e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.699e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
all individuals: 1192
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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: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

FS
type: SiteQuality
SIO_000300: 3.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
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SIO_000300: 1.4e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 7.04e-1

DP
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QD
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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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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Latino
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allele frequency: 0.0e0
allele num: 11578
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
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DP
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SIO_000300: 3.59384e6

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
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African
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 3.868e0

VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: 3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.305e0

ClippingRankSum
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DP
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SIO_000300: 3.593486e6

GenotypeQuality
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variant carriers: 2

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

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 1.06e0

DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
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GenotypeQuality
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variant carriers: 1

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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DP
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SIO_000300: 3.593446e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0