1-212148714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148714
    reference: chr 1
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609G>A
  hgvsp: ENSP00000355960.3:p.Gly537Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609G>A
  hgvsp: ENSP00000355961.3:p.Gly537Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462G>A
  hgvsp: ENSP00000388908.2:p.Gly488Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609G>A
  hgvsp: ENSP00000355959.3:p.Gly537Ser
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly537Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-212148716-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148716
    reference: chr 1
allele count: 6
allele frequency: 4.996169603304133e-5
allele num: 120092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-2A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-2A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-2A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-2A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-2A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-2A>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6861
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30024
  bin: 6.25e1
  variant carriers: 1
hgvs: c.1609-2A>T
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-212148717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148717
    reference: chr 1
allele count: 1
allele frequency: 8.332777814812346e-6
allele num: 120008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-3T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-3T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-3T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-3T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-3T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-3T>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 817
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13183
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6858
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3105
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genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1609-3T>C
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-212148718-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148718
    reference: chr 1
allele count: 1
allele frequency: 8.332222370350619e-6
allele num: 120016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-4T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-4T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-4T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-4T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-4T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-4T>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1609-4T>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-212148730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148730
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148730
    reference: chr 1
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-16C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-16C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-16C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-16C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-16C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-16C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-212148735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148735
    reference: chr 1
allele count: 1
allele frequency: 8.398280032249395e-6
allele num: 119072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-21C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-21C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-21C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-21C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-21C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-21C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3160
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genotype quality: GenotypeQuality
  all individuals: 28713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-212148739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148739
    reference: chr 1
allele count: 1
allele frequency: 8.41226845231085e-6
allele num: 118874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-25T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-25T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-25T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-25T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-25T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-25T>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
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genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

1-212148740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148740
    reference: chr 1
allele count: 6
allele frequency: 5.051525560719337e-5
allele num: 118776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-26T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-26T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-26T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-26T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-26T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-26T>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7803
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-212148743-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148743
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148743
    reference: chr 1
allele count: 1
allele frequency: 8.42971305256769e-6
allele num: 118628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-29T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-29T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-29T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-29T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-29T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-29T>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 899
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 39
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genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 49
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genotype quality: GenotypeQuality
  all individuals: 6843
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26760
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7686
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-212148750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148750
    reference: chr 1
allele count: 2
allele frequency: 1.695978834184149e-5
allele num: 117926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-36C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-36C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-36C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-36C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-36C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-36C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16574
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
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genotype quality: GenotypeQuality
  all individuals: 4058
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genotype quality: GenotypeQuality
  all individuals: 165
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genotype quality: GenotypeQuality
  all individuals: 1987
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 792
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genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-212148753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148753
    reference: chr 1
allele count: 1
allele frequency: 8.495743632440147e-6
allele num: 117706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-39C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-39C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-39C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-39C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-39C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-39C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-212148758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148758
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148758
    reference: chr 1
allele count: 1
allele frequency: 8.557247989046722e-6
allele num: 116860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-44G>A
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12441
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-212148759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148759
    reference: chr 1
allele count: 32
allele frequency: 2.742543709290367e-4
allele num: 116680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-45C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-45C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-45C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-45C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-45C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-45C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 156
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
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genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 268
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genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 358
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 315
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genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-212148759-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212148759
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212148759
    reference: chr 1
allele count: 5
allele frequency: 4.285224545766198e-5
allele num: 116680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1609-45C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1462-45C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1609-45C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1609-45C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1742-45C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.78-45C>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-212149876-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149876
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149876
    reference: chr 1
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.77+48C>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1461+48C>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1741+48C>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1608+48C>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1608+48C>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1608+48C>A
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9655
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

1-212149889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149889
    reference: chr 1
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1741+35G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.77+35G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1608+35G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1608+35G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1608+35G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1461+35G>A
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24592
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-212149897-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149897
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1608+27G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1741+27G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1461+27G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1608+27G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.77+27G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1608+27G>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
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genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 98
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genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-212149898-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149898
    reference: chr 1
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1608+26T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1608+26T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1608+26T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1741+26T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.77+26T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1461+26T>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-212149902-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149902
    reference: chr 1
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1608+22G>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1741+22G>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1461+22G>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1608+22G>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.77+22G>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1608+22G>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 12021
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-212149913-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149913
    reference: chr 1
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1608+11C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1461+11C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1608+11C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.77+11C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1741+11C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1608+11C>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

1-212149918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149918
    reference: chr 1
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1608+6T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.77+6T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1608+6T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1608+6T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1741+6T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1461+6T>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12698
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1608+6T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-212149935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149935
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149935
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1597G>T
  hgvsp: ENSP00000355960.3:p.Ala533Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1450G>T
  hgvsp: ENSP00000388908.2:p.Ala484Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.66G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1597G>T
  hgvsp: ENSP00000355961.3:p.Ala533Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1730G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1597G>T
  hgvsp: ENSP00000355959.3:p.Ala533Ser
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala533Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-212149950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149950
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149950
    reference: chr 1
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1715C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1435C>T
  hgvsp: ENSP00000388908.2:p.Arg479Cys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1582C>T
  hgvsp: ENSP00000355960.3:p.Arg528Cys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.51C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1582C>T
  hgvsp: ENSP00000355961.3:p.Arg528Cys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1582C>T
  hgvsp: ENSP00000355959.3:p.Arg528Cys
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13008
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg528Cys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-212149958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149958
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1574C>T
  hgvsp: ENSP00000355961.3:p.Thr525Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1707C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1574C>T
  hgvsp: ENSP00000355959.3:p.Thr525Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1574C>T
  hgvsp: ENSP00000355960.3:p.Thr525Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1427C>T
  hgvsp: ENSP00000388908.2:p.Thr476Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.43C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9050
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr525Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-212149962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149962
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149962
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1570T>C
  hgvsp: ENSP00000355961.3:p.Trp524Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1570T>C
  hgvsp: ENSP00000355960.3:p.Trp524Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1570T>C
  hgvsp: ENSP00000355959.3:p.Trp524Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1703T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1423T>C
  hgvsp: ENSP00000388908.2:p.Trp475Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.39T>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24583
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp524Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-212149963-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149963
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.38A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1569A>G
  hgvsp: ENST00000366993.3:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1702A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1569A>G
  hgvsp: ENST00000366992.3:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1422A>G
  hgvsp: ENST00000440600.2:c.1422A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1569A>G
  hgvsp: ENST00000366994.3:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  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: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13020
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly523Gly
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: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-212149967-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149967
    reference: chr 1
allele count: 10
allele frequency: 8.238589553468446e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1565A>G
  hgvsp: ENSP00000355960.3:p.Asn522Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.34A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1565A>G
  hgvsp: ENSP00000355961.3:p.Asn522Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1698A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1565A>G
  hgvsp: ENSP00000355959.3:p.Asn522Ser
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1418A>G
  hgvsp: ENSP00000388908.2:p.Asn473Ser
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn522Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-212149970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149970
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.31C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1562C>G
  hgvsp: ENSP00000355960.3:p.Ser521Cys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1562C>G
  hgvsp: ENSP00000355961.3:p.Ser521Cys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1562C>G
  hgvsp: ENSP00000355959.3:p.Ser521Cys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1695C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1415C>G
  hgvsp: ENSP00000388908.2:p.Ser472Cys
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser521Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-212149971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149971
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149971
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1561T>C
  hgvsp: ENSP00000355959.3:p.Ser521Pro
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1561T>C
  hgvsp: ENSP00000355961.3:p.Ser521Pro
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1414T>C
  hgvsp: ENSP00000388908.2:p.Ser472Pro
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1561T>C
  hgvsp: ENSP00000355960.3:p.Ser521Pro
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1694T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.30T>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser521Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-212149980-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149980
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149980
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1552G>C
  hgvsp: ENSP00000355961.3:p.Glu518Gln
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1405G>C
  hgvsp: ENSP00000388908.2:p.Glu469Gln
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1685G>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1552G>C
  hgvsp: ENSP00000355960.3:p.Glu518Gln
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.21G>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1552G>C
  hgvsp: ENSP00000355959.3:p.Glu518Gln
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24578
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu518Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-212149981-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149981
    reference: chr 1
allele count: 12
allele frequency: 9.886796183696674e-5
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.20T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1551T>G
  hgvsp: ENST00000366992.3:c.1551T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1404T>G
  hgvsp: ENST00000440600.2:c.1404T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1551T>G
  hgvsp: ENST00000366994.3:c.1551T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1684T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1551T>G
  hgvsp: ENST00000366993.3:c.1551T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu517Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-212149993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149993
    reference: chr 1
allele count: 12
allele frequency: 9.886796183696674e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1539T>C
  hgvsp: ENST00000366992.3:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1672T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1392T>C
  hgvsp: ENST00000440600.2:c.1392T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1539T>C
  hgvsp: ENST00000366994.3:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.8T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1539T>C
  hgvsp: ENST00000366993.3:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile513Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-212149994-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212149994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212149994
    reference: chr 1
allele count: 6
allele frequency: 4.943723942455053e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000475798
  gene symbol: INTS7
  hgvsc: ENST00000475798.1:n.7T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1538T>C
  hgvsp: ENSP00000355961.3:p.Ile513Thr
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1391T>C
  hgvsp: ENSP00000388908.2:p.Ile464Thr
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1671T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1538T>C
  hgvsp: ENSP00000355960.3:p.Ile513Thr
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1538T>C
  hgvsp: ENSP00000355959.3:p.Ile513Thr
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24567
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile513Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-212150007-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150007
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1525A>G
  hgvsp: ENSP00000355961.3:p.Ser509Gly
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1378A>G
  hgvsp: ENSP00000388908.2:p.Ser460Gly
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1658A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1525A>G
  hgvsp: ENSP00000355960.3:p.Ser509Gly
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1525A>G
  hgvsp: ENSP00000355959.3:p.Ser509Gly
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser509Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-212150013-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150013
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1372G>T
  hgvsp: ENSP00000388908.2:p.Val458Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1652G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1519G>T
  hgvsp: ENSP00000355960.3:p.Val507Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1519G>T
  hgvsp: ENSP00000355961.3:p.Val507Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1519G>T
  hgvsp: ENSP00000355959.3:p.Val507Leu
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val507Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-212150017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150017
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150017
    reference: chr 1
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1515G>A
  hgvsp: ENST00000366992.3:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1648G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1368G>A
  hgvsp: ENST00000440600.2:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1515G>A
  hgvsp: ENST00000366993.3:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1515G>A
  hgvsp: ENST00000366994.3:c.1515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu505Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum

1-212150020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150020
    reference: chr 1
allele count: 18
allele frequency: 1.48326383967566e-4
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1365A>G
  hgvsp: ENST00000440600.2:c.1365A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1512A>G
  hgvsp: ENST00000366992.3:c.1512A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1512A>G
  hgvsp: ENST00000366993.3:c.1512A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1645A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1512A>G
  hgvsp: ENST00000366994.3:c.1512A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala504Ala
num of homozygotes: 1
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-212150020-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150020
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1512A>C
  hgvsp: ENST00000366992.3:c.1512A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1365A>C
  hgvsp: ENST00000440600.2:c.1365A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1512A>C
  hgvsp: ENST00000366994.3:c.1512A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1512A>C
  hgvsp: ENST00000366993.3:c.1512A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1645A>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala504Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-212150027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150027
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150027
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1505A>G
  hgvsp: ENSP00000355961.3:p.Gln502Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1638A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1358A>G
  hgvsp: ENSP00000388908.2:p.Gln453Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1505A>G
  hgvsp: ENSP00000355959.3:p.Gln502Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1505A>G
  hgvsp: ENSP00000355960.3:p.Gln502Arg
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  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: 7933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  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: 13052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln502Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-212150032-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150032
    reference: chr 1
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1633A>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1500A>C
  hgvsp: ENST00000366993.3:c.1500A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1500A>C
  hgvsp: ENST00000366992.3:c.1500A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1500A>C
  hgvsp: ENST00000366994.3:c.1500A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1353A>C
  hgvsp: ENST00000440600.2:c.1353A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala500Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-212150049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150049
    reference: chr 1
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1616A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1483A>G
  hgvsp: ENSP00000355959.3:p.Thr495Ala
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1336A>G
  hgvsp: ENSP00000388908.2:p.Thr446Ala
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1483A>G
  hgvsp: ENSP00000355961.3:p.Thr495Ala
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1483A>G
  hgvsp: ENSP00000355960.3:p.Thr495Ala
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr495Ala
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: T
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-212150061-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150061
    reference: chr 1
allele count: 8
allele frequency: 6.602621240632531e-5
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1471G>T
  hgvsp: ENSP00000355961.3:p.Val491Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1604G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1471G>T
  hgvsp: ENSP00000355960.3:p.Val491Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1324G>T
  hgvsp: ENSP00000388908.2:p.Val442Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1471G>T
  hgvsp: ENSP00000355959.3:p.Val491Leu
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val491Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-212150068-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150068
    reference: chr 1
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1324-7A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1471-7A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1471-7A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1471-7A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1604-7A>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12630
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1471-7A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-212150070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150070
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150070
    reference: chr 1
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1471-9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1324-9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1604-9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1471-9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1471-9C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-212150091-AATCATTTAATTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150078
    reference: chr 1
allele count: 4
allele frequency: 3.317794993447355e-5
allele num: 120562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10214
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 547
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: AATCATTTAATTTT
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/1-212150094-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150094
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150094
    reference: chr 1
allele count: 45
allele frequency: 3.736114109227372e-4
allele num: 120446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1471-33G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1324-33G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1471-33G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1471-33G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1604-33G>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1582
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1991
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 381
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4185
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9795
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-212150100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212150100
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212150100
    reference: chr 1
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1471-39T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1471-39T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1471-39T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1324-39T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1604-39T>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-212151570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151570
    reference: chr 1
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1470+44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1603+44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1470+44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1470+44G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1323+44G>A
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/1-212151571-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151571
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151571
    reference: chr 1
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1470+43G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1603+43G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1323+43G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1470+43G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1470+43G>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
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genotype quality: GenotypeQuality
  all individuals: 3003
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4922
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33331
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-212151602-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151602
    reference: chr 1
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1470+12A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1470+12A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1603+12A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1323+12A>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1470+12A>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35001
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 101
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genotype quality: GenotypeQuality
  all individuals: 1002
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2442
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genotype quality: GenotypeQuality
  all individuals: 8740
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-212151605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151605
    reference: chr 1
allele count: 40
allele frequency: 3.298751422586551e-4
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1470+9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1470+9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1470+9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1323+9C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1603+9C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

1-212151609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151609
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1470+5A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1603+5A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1470+5A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1323+5A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1470+5A>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  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: 4887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1470+5A>G
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-212151619-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151619
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151619
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1465C>A
  hgvsp: ENSP00000355961.3:p.Leu489Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1318C>A
  hgvsp: ENSP00000388908.2:p.Leu440Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1598C>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1465C>A
  hgvsp: ENSP00000355960.3:p.Leu489Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1465C>A
  hgvsp: ENSP00000355959.3:p.Leu489Ile
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu489Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-212151622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151622
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151622
    reference: chr 1
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1462G>A
  hgvsp: ENSP00000355960.3:p.Glu488Lys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1595G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1315G>A
  hgvsp: ENSP00000388908.2:p.Glu439Lys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1462G>A
  hgvsp: ENSP00000355961.3:p.Glu488Lys
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1462G>A
  hgvsp: ENSP00000355959.3:p.Glu488Lys
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
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  variant carriers: 0
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: 4885
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8769
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu488Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-212151623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151623
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151623
    reference: chr 1
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1461A>G
  hgvsp: ENST00000366994.3:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1461A>G
  hgvsp: ENST00000366993.3:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1594A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1461A>G
  hgvsp: ENST00000366992.3:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1314A>G
  hgvsp: ENST00000440600.2:c.1314A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln487Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-212151624-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151624
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151624
    reference: chr 1
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1460A>G
  hgvsp: ENSP00000355960.3:p.Gln487Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1460A>G
  hgvsp: ENSP00000355959.3:p.Gln487Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1313A>G
  hgvsp: ENSP00000388908.2:p.Gln438Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1460A>G
  hgvsp: ENSP00000355961.3:p.Gln487Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1593A>G
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
  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: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln487Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-212151630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151630
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1587A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1454A>G
  hgvsp: ENSP00000355959.3:p.Lys485Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1454A>G
  hgvsp: ENSP00000355960.3:p.Lys485Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1307A>G
  hgvsp: ENSP00000388908.2:p.Lys436Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1454A>G
  hgvsp: ENSP00000355961.3:p.Lys485Arg
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys485Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-212151635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151635
    reference: chr 1
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1449A>G
  hgvsp: ENST00000366992.3:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1449A>G
  hgvsp: ENST00000366994.3:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1449A>G
  hgvsp: ENST00000366993.3:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1582A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1302A>G
  hgvsp: ENST00000440600.2:c.1302A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr483Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-212151645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151645
    reference: chr 1
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1292G>T
  hgvsp: ENSP00000388908.2:p.Arg431Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1572G>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1439G>T
  hgvsp: ENSP00000355961.3:p.Arg480Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1439G>T
  hgvsp: ENSP00000355960.3:p.Arg480Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1439G>T
  hgvsp: ENSP00000355959.3:p.Arg480Leu
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg480Leu
num of homozygotes: 1
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-212151650-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151650
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1567T>C
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1434T>C
  hgvsp: ENST00000366993.3:c.1434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1287T>C
  hgvsp: ENST00000440600.2:c.1287T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1434T>C
  hgvsp: ENST00000366994.3:c.1434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1434T>C
  hgvsp: ENST00000366992.3:c.1434T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile478Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-212151653-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151653
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151653
    reference: chr 1
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1431G>C
  hgvsp: ENST00000366993.3:c.1431G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1431G>C
  hgvsp: ENST00000366992.3:c.1431G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1431G>C
  hgvsp: ENST00000366994.3:c.1431G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1284G>C
  hgvsp: ENST00000440600.2:c.1284G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1564G>C
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val477Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

1-212151659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151659
    reference: chr 1
allele count: 50
allele frequency: 4.119226903494752e-4
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1558C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1278C>T
  hgvsp: ENST00000440600.2:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1425C>T
  hgvsp: ENST00000366993.3:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1425C>T
  hgvsp: ENST00000366992.3:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1425C>T
  hgvsp: ENST00000366994.3:c.1425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 28114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr475Tyr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-212151662-CAGCTCCATG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151662
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151653
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsp: ENSP00000355961.3:p.Met472_Leu474del
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsp: ENSP00000355959.3:p.Met472_Leu474del
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsp: ENSP00000388908.2:p.Met423_Leu425del
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsp: ENSP00000355960.3:p.Met472_Leu474del
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35265
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met472_Leu474del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: CAGCTCCATG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-212151669-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151669
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1548T>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1415T>G
  hgvsp: ENSP00000355960.3:p.Met472Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1415T>G
  hgvsp: ENSP00000355959.3:p.Met472Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1415T>G
  hgvsp: ENSP00000355961.3:p.Met472Arg
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1268T>G
  hgvsp: ENSP00000388908.2:p.Met423Arg
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8779
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
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genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met472Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-212151673-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151673
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1411C>A
  hgvsp: ENSP00000355961.3:p.Leu471Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1264C>A
  hgvsp: ENSP00000388908.2:p.Leu422Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1411C>A
  hgvsp: ENSP00000355960.3:p.Leu471Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1411C>A
  hgvsp: ENSP00000355959.3:p.Leu471Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1544C>A
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu471Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-212151701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151701
    reference: chr 1
allele count: 18
allele frequency: 1.48326383967566e-4
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1383G>A
  hgvsp: ENST00000366993.3:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1383G>A
  hgvsp: ENST00000366994.3:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1516G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1236G>A
  hgvsp: ENST00000440600.2:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1383G>A
  hgvsp: ENST00000366992.3:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro461Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-212151702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151702
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151702
    reference: chr 1
allele count: 8
allele frequency: 6.592609684543627e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1235C>T
  hgvsp: ENSP00000388908.2:p.Pro412Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1382C>T
  hgvsp: ENSP00000355960.3:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1382C>T
  hgvsp: ENSP00000355959.3:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1515C>T
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1382C>T
  hgvsp: ENSP00000355961.3:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro461Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-212151718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151718
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1499A>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1366A>G
  hgvsp: ENSP00000355960.3:p.Ile456Val
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1366A>G
  hgvsp: ENSP00000355961.3:p.Ile456Val
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1366A>G
  hgvsp: ENSP00000355959.3:p.Ile456Val
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1219A>G
  hgvsp: ENSP00000388908.2:p.Ile407Val
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35280
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile456Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

1-212151733-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151733
    reference: chr 1
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1204C>G
  hgvsp: ENSP00000388908.2:p.His402Asp
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1351C>G
  hgvsp: ENSP00000355961.3:p.His451Asp
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1484C>G
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1351C>G
  hgvsp: ENSP00000355960.3:p.His451Asp
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1351C>G
  hgvsp: ENSP00000355959.3:p.His451Asp
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His451Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-212151734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151734
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151734
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1203C>T
  hgvsp: ENST00000440600.2:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1350C>T
  hgvsp: ENST00000366992.3:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1350C>T
  hgvsp: ENST00000366993.3:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1350C>T
  hgvsp: ENST00000366994.3:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1483C>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys450Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-212151737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151737
    reference: chr 1
allele count: 42
allele frequency: 3.461576500840669e-4
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1200G>A
  hgvsp: ENSP00000388908.2:p.Met400Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1480G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1347G>A
  hgvsp: ENSP00000355961.3:p.Met449Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1347G>A
  hgvsp: ENSP00000355959.3:p.Met449Ile
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1347G>A
  hgvsp: ENSP00000355960.3:p.Met449Ile
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met449Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-212151746-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151746
    reference: chr 1
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1338G>T
  hgvsp: ENST00000366994.3:c.1338G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1191G>T
  hgvsp: ENST00000440600.2:c.1191G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1338G>T
  hgvsp: ENST00000366993.3:c.1338G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1338G>T
  hgvsp: ENST00000366992.3:c.1338G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1471G>T
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg446Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-212151747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 212151747
    reference: chr 1
allele count: 3
allele frequency: 2.472636159831201e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143493
  ensembl transcript: ENST00000469606
  gene symbol: INTS7
  hgvsc: ENST00000469606.1:n.1470G>A
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000388908
  ensembl transcript: ENST00000440600
  gene symbol: INTS7
  hgvsc: ENST00000440600.2:c.1190G>A
  hgvsp: ENSP00000388908.2:p.Arg397Gln
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355959
  ensembl transcript: ENST00000366992
  gene symbol: INTS7
  hgvsc: ENST00000366992.3:c.1337G>A
  hgvsp: ENSP00000355959.3:p.Arg446Gln
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355960
  ensembl transcript: ENST00000366993
  gene symbol: INTS7
  hgvsc: ENST00000366993.3:c.1337G>A
  hgvsp: ENSP00000355960.3:p.Arg446Gln
  variant of: http://identifiers.org/hgnc/24484
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143493
  ensembl protein: ENSP00000355961
  ensembl transcript: ENST00000366994
  gene symbol: INTS7
  hgvsc: ENST00000366994.3:c.1337G>A
  hgvsp: ENSP00000355961.3:p.Arg446Gln
  variant of: http://identifiers.org/hgnc/24484
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg446Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-212151754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 212151754
allele count: 4
allele frequency: 3.297119965709952e-5
allele num: 121318
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ala444Thr
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 5.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 1.846699e6

QD
type: SiteQuality
SIO_000300: 1.293e1

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.051138934982652e-5
allele num: 66290
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

FS
type: SiteQuality
SIO_000300: 8.605e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

VQSLOD
type: SiteQuality
SIO_000300: -2.978e0

DP
type: SiteQuality
SIO_000300: 1.845812e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

GenotypeQuality
all individuals: 8422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4198
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.628e1

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.842654e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

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

GenotypeQuality
all individuals: 892
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8425
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.842511e6

FS
type: SiteQuality
SIO_000300: 3.078e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

GenotypeQuality
all individuals: 3094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6841
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65910
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035625517812759e-4
allele num: 9656
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.073e0

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

DP
type: SiteQuality
SIO_000300: 1.831403e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 9.805e0

VQSLOD
type: SiteQuality
SIO_000300: -2.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQ
type: SiteQuality
SIO_000300: 5.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 6839
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 8052
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variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.038421599169263e-4
allele num: 9630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.820273e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.134e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -2.999e0

FS
type: SiteQuality
SIO_000300: 1.5348e1

QD
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

GenotypeQuality
all individuals: 1417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3129
bin: 7.25e1
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
all individuals: 7824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27569
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65610
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.038637307852098e-4
allele num: 9628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.802846e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

GenotypeQuality
all individuals: 348
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6846
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1994
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variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
all individuals: 4116
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.768853034023149e-5
allele num: 11404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.625903669584846e-5
allele num: 65566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 5.39e0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

QD
type: SiteQuality
SIO_000300: 1.531e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.799398e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

GenotypeQuality
all individuals: 379
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
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variant carriers: 0

GenotypeQuality
all individuals: 4104
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526810797605961e-5
allele num: 65496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -2.826e0

DP
type: SiteQuality
SIO_000300: 1.79109e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6837
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.073046310807904e-5
allele num: 65082
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.049e0

MQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

VQSLOD
type: SiteQuality
SIO_000300: -1.423e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.744737e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 1400
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variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.228199459592238e-4
allele num: 8142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.506e0

MQ
type: SiteQuality
SIO_000300: 3.732e1

VQSLOD
type: SiteQuality
SIO_000300: -3.322e0

FS
type: SiteQuality
SIO_000300: 1.8059e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 1.730308e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

MQRankSum
type: SiteQuality
SIO_000300: -1.174e0

QD
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 810
bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 3022
bin: 8.25e1
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GenotypeQuality
all individuals: 6509
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.911067545891998e-5
allele num: 11222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

QD
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 3.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.347e0

DP
type: SiteQuality
SIO_000300: 1.69985e6

VQSLOD
type: SiteQuality
SIO_000300: -4.521e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.611e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1962
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GenotypeQuality
all individuals: 6831
bin: 9.75e1
variant carriers: 30

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553953257086027e-5
allele num: 64352
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.785714285714286e-4
allele num: 11200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

East Asian
type: Population
allele count: 27
allele frequency: 3.365744203440539e-3
allele num: 8022
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.456e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.696809e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2439
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GenotypeQuality
all individuals: 6831
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1483
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variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.986287708800798e-4
allele num: 8022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553953257086027e-5
allele num: 64352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.456e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

DP
type: SiteQuality
SIO_000300: 1.696809e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

GenotypeQuality
all individuals: 4235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4033
bin: 9.25e1
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GenotypeQuality
all individuals: 4348
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.022e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

DP
type: SiteQuality
SIO_000300: 2.556882e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.68e0

MQRankSum
type: SiteQuality
SIO_000300: -1.344e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.566703e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 4.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.207324643078833e-5
allele num: 16110
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 2.575026e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

QD
type: SiteQuality
SIO_000300: 1.147e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

DP
type: SiteQuality
SIO_000300: 2.575871e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.161e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 24589
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.178178672927221e-5
allele num: 16186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.479e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
SIO_000300: 2.578721e6

GenotypeQuality
all individuals: 24589
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4366
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
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: 6612
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: -7.616000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 8.097e0

QD
type: SiteQuality
SIO_000300: 1.425e1

MQRankSum
type: SiteQuality
SIO_000300: -1.234e0

DP
type: SiteQuality
SIO_000300: 2.585704e6

GenotypeQuality
all individuals: 161
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
all individuals: 2223
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variant carriers: 0

GenotypeQuality
all individuals: 24590
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 2470
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GenotypeQuality
all individuals: 38
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variant carriers: 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: 6612
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 2.587927e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.234e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

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

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4234
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
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: 6612
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.428e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.591525e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 8.75e1
variant carriers: 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

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: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.45e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4374
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GenotypeQuality
all individuals: 5674
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variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.592784e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.736e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 8.75e1
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: 6612
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.492e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 7.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 2.592897e6

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

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

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

GenotypeQuality
all individuals: 2220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24583
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.336e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 2.592785e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5680
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4374
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24584
bin: 9.75e1
variant carriers: 10

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.99199712256092e-5
allele num: 66726
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.541e1

DP
type: SiteQuality
SIO_000300: 2.593273e6

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

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

GenotypeQuality
all individuals: 24578
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 10406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.445e1

FS
type: SiteQuality
SIO_000300: 1.135e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 2.592647e6

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

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

GenotypeQuality
all individuals: 2472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4374
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 2.592641e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.849e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -1.621e0

MQRankSum
type: SiteQuality
SIO_000300: -1.331e0

QD
type: SiteQuality
SIO_000300: 1.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
all individuals: 2471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 8.25e1
variant carriers: 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: 11560
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: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

DP
type: SiteQuality
SIO_000300: 2.59266e6

QD
type: SiteQuality
SIO_000300: 1.575e1

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

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

GenotypeQuality
all individuals: 13035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24584
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 4031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5680
bin: 6.75e1
variant carriers: 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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.26920281075842e-4
allele num: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.59311e6

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.72e-1

FS
type: SiteQuality
SIO_000300: 1.111e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24572
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4374
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 10
allele frequency: 1.155802126675913e-3
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.436e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

DP
type: SiteQuality
SIO_000300: 2.593134e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

GenotypeQuality
all individuals: 2218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13060
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4031
bin: 9.25e1
variant carriers: 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: 8652
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: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991188635137565e-5
allele num: 66732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.419e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

DP
type: SiteQuality
SIO_000300: 2.592077e6

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 1.526e1

GenotypeQuality
all individuals: 4032
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24560
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 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: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 66728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 3.308e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

DP
type: SiteQuality
SIO_000300: 2.591552e6

GenotypeQuality
all individuals: 4374
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24559
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5676
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.591468e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.036e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.251e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 2.591423e6

QD
type: SiteQuality
SIO_000300: 9.66e0

FS
type: SiteQuality
SIO_000300: 4.066e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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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bin: 9.75e1
variant carriers: 17

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

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

South Asian
type: Population
allele count: 16
allele frequency: 9.691096305269534e-4
allele num: 16510
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 2.591944e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 2460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 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: 66718
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.591944e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 8652
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.83e0

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e0

DP
type: SiteQuality
SIO_000300: 2.590874e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 24550
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13031
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
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: 8652
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: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 2.851e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.168e1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.514e0

DP
type: SiteQuality
SIO_000300: 2.590661e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 1.834e0

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 2.589406e6

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
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variant carriers: 8

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: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.250693802035153e-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

DP
type: SiteQuality
SIO_000300: 2.587519e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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: 906
num of homozygotes: 0

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

South Asian
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allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

FS
type: SiteQuality
SIO_000300: 1.2135e1

QD
type: SiteQuality
SIO_000300: 1.17e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.584419e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 24540
bin: 9.75e1
variant carriers: 1

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.197e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.583254e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.32e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 3.90015600624025e-4
allele num: 10256
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.082e0

DP
type: SiteQuality
SIO_000300: 2.547891e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.39e-1

QD
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.086e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24543
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variant carriers: 45

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 40
allele frequency: 6.025729866530083e-4
allele num: 66382
num of homozygotes: 1

African
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allele frequency: 4.8828125e-4
allele num: 10240
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.283e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 2.541662e6

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

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

GenotypeQuality
all individuals: 1189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4019
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-1

FS
type: SiteQuality
SIO_000300: 1.369e0

QD
type: SiteQuality
SIO_000300: 1.58e1

DP
type: SiteQuality
SIO_000300: 2.523077e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -1.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -4.499e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 338
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 1.5826e1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.82488e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQ
type: SiteQuality
SIO_000300: 5.909e1

GenotypeQuality
all individuals: 339
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.25e1
variant carriers: 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: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.666e1

FS
type: SiteQuality
SIO_000300: 1.1604e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.57e-2

MQ
type: SiteQuality
SIO_000300: 5.877e1

VQSLOD
type: SiteQuality
SIO_000300: -2.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 1.825932e6

GenotypeQuality
all individuals: 4925
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3012
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
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: 10362
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: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.842832e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 40
allele frequency: 3.459010722933241e-3
allele num: 11564
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
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: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.375e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 1.845373e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 1.15e0

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

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

GenotypeQuality
all individuals: 2444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35099
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

DP
type: SiteQuality
SIO_000300: 1.84109e6

QD
type: SiteQuality
SIO_000300: 1.159e1

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

FS
type: SiteQuality
SIO_000300: 7.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.022e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: -3.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 8.25e1
variant carriers: 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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-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

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

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

DP
type: SiteQuality
SIO_000300: 1.842059e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.842209e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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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
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 7.25e1
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: 11560
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.438e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 9.458e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

DP
type: SiteQuality
SIO_000300: 1.842168e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4883
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.22e1

FS
type: SiteQuality
SIO_000300: 3.871e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.842164e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35221
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 10402
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

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.842372e6

FS
type: SiteQuality
SIO_000300: 4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.227e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.506e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4882
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8776
bin: 6.75e1
variant carriers: 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: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 10402
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: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.842203e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.084e0

FS
type: SiteQuality
SIO_000300: 4.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.44e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
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variant carriers: 1

GenotypeQuality
all individuals: 1004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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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: 66724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 1

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

QD
type: SiteQuality
SIO_000300: 3.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: -2.704e0

DP
type: SiteQuality
SIO_000300: 1.842303e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.16e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.521e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
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bin: 7.25e1
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
all individuals: 35233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4878
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.842205e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 2442
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.842167e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3998
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variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 9.75e1
variant carriers: 50

Latino
type: Population
allele count: 50
allele frequency: 4.326007959854646e-3
allele num: 11558
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
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: 10404
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.16e0

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.842991e6

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 1320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 7.75e1
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.585e0

FS
type: SiteQuality
SIO_000300: 9.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

QD
type: SiteQuality
SIO_000300: 5.97e0

MQ
type: SiteQuality
SIO_000300: 5.088e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 1.837859e6

GenotypeQuality
all individuals: 1320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35269
bin: 6.25e1
variant carriers: 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: 10404
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: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.755e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

FS
type: SiteQuality
SIO_000300: 6.967e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

DP
type: SiteQuality
SIO_000300: 1.837767e6

QD
type: SiteQuality
SIO_000300: 1.502e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 3017
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
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: 16512
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: -5.7e0

FS
type: SiteQuality
SIO_000300: 7.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.837836e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.69735659054127e-4
allele num: 66732
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

DP
type: SiteQuality
SIO_000300: 1.837565e6

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35273
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8785
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049066330965441e-4
allele num: 66726
num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.836164e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
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
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

FS
type: SiteQuality
SIO_000300: 3.335e0

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

GenotypeQuality
all individuals: 1320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4797
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
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: 6.056201550387597e-5
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: 6612
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

QD
type: SiteQuality
SIO_000300: 1.527e1

DP
type: SiteQuality
SIO_000300: 1.834545e6

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.293e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.566e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
all individuals: 3992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4796
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.834461e6

FS
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.986e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.395e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
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
allele num: 11524
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: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 42
allele frequency: 2.543604651162791e-3
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 1.836403e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 6612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 4.853e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

DP
type: SiteQuality
SIO_000300: 1.832716e6

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4760
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1003
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
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: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
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

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

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

FS
type: SiteQuality
SIO_000300: 4.28e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.832606e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1