1-63920145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920145
    reference: chr 1
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-1G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-1G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
hgvs: c.451-1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-63920159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920159
    reference: chr 1
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-15A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-15A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-63920169-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920169
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920169
    reference: chr 1
allele count: 1
allele frequency: 8.339448929214757e-6
allele num: 119912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-25C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-25C>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-63920177-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920177
    reference: chr 1
allele count: 1
allele frequency: 8.358967500334358e-6
allele num: 119632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-33G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-33G>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-63920177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920177
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920177
    reference: chr 1
allele count: 1
allele frequency: 8.358967500334358e-6
allele num: 119632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-33G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-33G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-63920179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920179
    reference: chr 1
allele count: 1
allele frequency: 8.359666282122017e-6
allele num: 119622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-35G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-35G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-63920180-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920180
    reference: chr 1
allele count: 1
allele frequency: 8.358268835358821e-6
allele num: 119642
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-36A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-36A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

1-63920186-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920184
    reference: chr 1
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-44_282-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-44_334-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-44_451-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-44_61-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-44_383-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-44_204-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-44_334-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-44_642-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-44_413-43delAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-44_334-43delAT
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: CAT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-63920189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920189
    reference: chr 1
allele count: 1
allele frequency: 8.381667616588997e-6
allele num: 119308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.282-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.413-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.334-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.334-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.383-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.642-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.334-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.61-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.451-45C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.204-45C>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4871
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-63920511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920511
    reference: chr 1
allele count: 3
allele frequency: 3.98628717212788e-5
allele num: 75258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.382+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.641+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.281+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.60+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.333+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.450+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.203+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.333+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.333+50G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.412+50G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17981
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-63920515-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920515
    reference: chr 1
allele count: 13437
allele frequency: 1.765656618748522e-1
allele num: 76102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.382+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.203+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.333+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.641+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.333+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.450+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.60+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.412+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.281+46G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.333+46G>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 2.5e0
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.25e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 18135
  bin: 1.25e1
  variant carriers: 5555
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 7.5e0
  variant carriers: 3888
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 1.75e1
  variant carriers: 3081
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.25e1
  variant carriers: 1238
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.75e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.75e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 1.75e1
  variant carriers: 295
num of homozygotes: 1441
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

1-63920526-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920526
    reference: chr 1
allele count: 4
allele frequency: 5.109862033725089e-5
allele num: 78280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.641+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.281+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.60+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.450+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.412+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.333+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.382+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.333+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.333+35A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.203+35A>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-63920542-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920542
    reference: chr 1
allele count: 1
allele frequency: 1.208955945645341e-5
allele num: 82716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.60+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.333+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.333+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.382+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.333+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.281+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.641+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.450+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.412+19T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.203+19T>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17666
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-63920563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920563
    reference: chr 1
allele count: 1
allele frequency: 1.075824081246235e-5
allele num: 92952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.380C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.58C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.331C>T
  hgvsp: ENSP00000283568.8:p.Gln111Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.448C>T
  hgvsp: ENSP00000360133.3:p.Gln150Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.410C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.331C>T
  hgvsp: ENSP00000432904.1:p.Gln111Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.639C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.279C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.201C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.331C>T
  hgvsp: ENSP00000271002.10:p.Gln111Ter
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln150Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

1-63920566-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920566
    reference: chr 1
allele count: 3
allele frequency: 3.172454633898735e-5
allele num: 94564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.377A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.328A>G
  hgvsp: ENSP00000432904.1:p.Ile110Val
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.328A>G
  hgvsp: ENSP00000271002.10:p.Ile110Val
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.445A>G
  hgvsp: ENSP00000360133.3:p.Ile149Val
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.198A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.636A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.328A>G
  hgvsp: ENSP00000283568.8:p.Ile110Val
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.276A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.407A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.55A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile149Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-63920567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920567
    reference: chr 1
allele count: 1
allele frequency: 1.052321421054847e-5
allele num: 95028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.635T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.406T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.327T>C
  hgvsp: ENST00000271002.10:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.444T>C
  hgvsp: ENST00000371092.3:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.327T>C
  hgvsp: ENST00000489099.1:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.376T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.197T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.54T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.275T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.327T>C
  hgvsp: ENST00000283568.8:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser148Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-63920568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920568
    reference: chr 1
allele count: 13
allele frequency: 1.360943028831055e-4
allele num: 95522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.196G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.326G>A
  hgvsp: ENSP00000432904.1:p.Ser109Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.375G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.443G>A
  hgvsp: ENSP00000360133.3:p.Ser148Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.326G>A
  hgvsp: ENSP00000283568.8:p.Ser109Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.326G>A
  hgvsp: ENSP00000271002.10:p.Ser109Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.405G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.53G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.634G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.274G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser148Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-63920572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920572
    reference: chr 1
allele count: 1
allele frequency: 1.026546492290636e-5
allele num: 97414
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.439A>G
  hgvsp: ENSP00000360133.3:p.Ser147Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.192A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.322A>G
  hgvsp: ENSP00000271002.10:p.Ser108Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.371A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.322A>G
  hgvsp: ENSP00000283568.8:p.Ser108Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.270A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.322A>G
  hgvsp: ENSP00000432904.1:p.Ser108Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.49A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.401A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.630A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser147Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-63920591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920591
    reference: chr 1
allele count: 1
allele frequency: 9.798349957867095e-6
allele num: 102058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.420G>A
  hgvsp: ENSP00000360133.3:p.Met140Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.382G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.352G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.30G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.303G>A
  hgvsp: ENSP00000432904.1:p.Met101Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.251G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.173G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.303G>A
  hgvsp: ENSP00000271002.10:p.Met101Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.303G>A
  hgvsp: ENSP00000283568.8:p.Met101Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.611G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34683
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10331
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met140Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-63920592-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920592
    reference: chr 1
allele count: 2
allele frequency: 1.954728488212987e-5
allele num: 102316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.419T>G
  hgvsp: ENSP00000360133.3:p.Met140Arg
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.610T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.250T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.302T>G
  hgvsp: ENSP00000271002.10:p.Met101Arg
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.29T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.302T>G
  hgvsp: ENSP00000283568.8:p.Met101Arg
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.351T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.172T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.302T>G
  hgvsp: ENSP00000432904.1:p.Met101Arg
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.381T>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34854
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met140Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-63920606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920606
    reference: chr 1
allele count: 7
allele frequency: 6.830334491237656e-5
allele num: 102484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.288G>A
  hgvsp: ENST00000489099.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.367G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.15G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.288G>A
  hgvsp: ENST00000271002.10:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.288G>A
  hgvsp: ENST00000283568.8:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.596G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.236G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.405G>A
  hgvsp: ENST00000371092.3:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.158G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.337G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33753
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu135Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-63920607-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920607
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920607
    reference: chr 1
allele count: 1
allele frequency: 9.746398705678253e-6
allele num: 102602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.287T>G
  hgvsp: ENSP00000271002.10:p.Leu96Trp
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.366T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.157T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.14T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.235T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.595T>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.404T>G
  hgvsp: ENSP00000360133.3:p.Leu135Trp
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.287T>G
  hgvsp: ENSP00000283568.8:p.Leu96Trp
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.287T>G
  hgvsp: ENSP00000432904.1:p.Leu96Trp
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.336T>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu135Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-63920619-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920619
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920619
    reference: chr 1
allele count: 2
allele frequency: 1.970521005753921e-5
allele num: 101496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.145A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.324A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.275A>C
  hgvsp: ENSP00000283568.8:p.Lys92Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.275A>C
  hgvsp: ENSP00000271002.10:p.Lys92Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.392A>C
  hgvsp: ENSP00000360133.3:p.Lys131Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.275A>C
  hgvsp: ENSP00000432904.1:p.Lys92Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.583A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.354A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.223A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.2A>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys131Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-63920620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920620
    reference: chr 1
allele count: 2
allele frequency: 1.971803214039239e-5
allele num: 101430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.274A>G
  hgvsp: ENSP00000271002.10:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.222A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.391A>G
  hgvsp: ENSP00000360133.3:p.Lys131Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.323A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.582A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.144A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.274A>G
  hgvsp: ENSP00000283568.8:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.274A>G
  hgvsp: ENSP00000432904.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.353A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000463803
  gene symbol: ITGB3BP
  hgvsc: ENST00000463803.1:n.1A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys131Glu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-63920620-TTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920618
    reference: chr 1
allele count: 2
allele frequency: 1.971803214039239e-5
allele num: 101430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.351_352delCA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.389_390delCA
  hgvsp: ENSP00000360133.3:p.Ser130Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.272_273delCA
  hgvsp: ENSP00000283568.8:p.Ser91Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.580_581delCA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.272_273delCA
  hgvsp: ENSP00000271002.10:p.Ser91Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.272_273delCA
  hgvsp: ENSP00000432904.1:p.Ser91Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.220_221delCA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.142_143delCA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.321_322delCA
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser130Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: TTG
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-63920624-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920624
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920622
    reference: chr 1
allele count: 1
allele frequency: 9.928120408244311e-6
allele num: 100724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.268_269delCT
  hgvsp: ENSP00000283568.8:p.Leu90IlefsTer4
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.138_139delCT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.317_318delCT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.268_269delCT
  hgvsp: ENSP00000432904.1:p.Leu90IlefsTer4
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.216_217delCT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.347_348delCT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.385_386delCT
  hgvsp: ENSP00000360133.3:p.Leu129IlefsTer4
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.576_577delCT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.268_269delCT
  hgvsp: ENSP00000271002.10:p.Leu90IlefsTer4
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30967
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu129IlefsTer4
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: TAG
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-63920629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920629
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920629
    reference: chr 1
allele count: 1
allele frequency: 1.000960922485586e-5
allele num: 99904
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.382T>C
  hgvsp: ENST00000371092.3:c.382T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.265T>C
  hgvsp: ENST00000283568.8:c.265T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.265T>C
  hgvsp: ENST00000271002.10:c.265T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.213T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.135T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.573T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.265T>C
  hgvsp: ENST00000489099.1:c.265T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.314T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.344T>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu128Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-63920630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920630
    reference: chr 1
allele count: 6
allele frequency: 6.030756859985928e-5
allele num: 99490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.264G>A
  hgvsp: ENSP00000271002.10:p.Met88Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.264G>A
  hgvsp: ENSP00000283568.8:p.Met88Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.343G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.264G>A
  hgvsp: ENSP00000432904.1:p.Met88Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.572G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.134G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.212G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.381G>A
  hgvsp: ENSP00000360133.3:p.Met127Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.313G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28732
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met127Ile
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS

1-63920635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920635
    reference: chr 1
allele count: 16
allele frequency: 1.625817989676056e-4
allele num: 98412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.259A>G
  hgvsp: ENSP00000283568.8:p.Met87Val
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.259A>G
  hgvsp: ENSP00000432904.1:p.Met87Val
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.567A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.259A>G
  hgvsp: ENSP00000271002.10:p.Met87Val
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.338A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.207A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.308A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.129A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.376A>G
  hgvsp: ENSP00000360133.3:p.Met126Val
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26873
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met126Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-63920661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920661
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920661
    reference: chr 1
allele count: 3
allele frequency: 3.28529501949275e-5
allele num: 91316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.304-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.372-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.255-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.334-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.255-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.255-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.203-22T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.563-22T>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11621
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-63920672-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920672
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920672
    reference: chr 1
allele count: 2
allele frequency: 2.296685882271882e-5
allele num: 87082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.334-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.563-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.255-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.304-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.372-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.203-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.255-33C>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.255-33C>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-63920681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920681
    reference: chr 1
allele count: 1
allele frequency: 1.20635992954858e-5
allele num: 82894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.255-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.203-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.334-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.372-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.255-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.255-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.304-42A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.563-42A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7393
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

1-63920684-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920684
    reference: chr 1
allele count: 1
allele frequency: 1.244771957777335e-5
allele num: 80336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.304-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.255-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.255-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.255-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.334-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.372-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.563-45T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.203-45T>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

1-63920689-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920689
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920688
    reference: chr 1
allele count: 423
allele frequency: 5.392244346429391e-3
allele num: 78446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.255-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.304-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.334-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.372-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.203-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.255-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.563-51delC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.255-51delC
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 2.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16734
  bin: 7.5e0
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 1.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 1.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 11
num of homozygotes: 5
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: TG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-63920690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63920690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63920690
    reference: chr 1
allele count: 1
allele frequency: 1.29510192452146e-5
allele num: 77214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.334-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.255-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.255-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.372-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000461681
  gene symbol: ITGB3BP
  hgvsc: ENST00000461681.1:n.563-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.203-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.304-51C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.255-51C>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10439
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-63944386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944386
    reference: chr 1
allele count: 1
allele frequency: 8.940865118108828e-6
allele num: 111846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.254+49G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.333+49G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20342G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23747G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.303+49G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.202+49G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.254+49G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.322+49G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.254+49G>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.371+49G>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-63944405-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944404
    reference: chr 1
allele count: 3
allele frequency: 2.650926056835855e-5
allele num: 113168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.333+29delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.254+29delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.322+29delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.254+29delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.371+29delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23767delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20362delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.254+29delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.303+29delT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.202+29delT
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: CA
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-63944406-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944406
    reference: chr 1
allele count: 4
allele frequency: 3.52460172000564e-5
allele num: 113488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.333+29T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23767T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.303+29T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.254+29T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20362T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.254+29T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.322+29T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.254+29T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.371+29T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.202+29T>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24692
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-63944407-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944407
    reference: chr 1
allele count: 1
allele frequency: 8.807468733485996e-6
allele num: 113540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20363A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.202+28A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23768A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.254+28A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.322+28A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.254+28A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.254+28A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.333+28A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.303+28A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.371+28A>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-63944409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944409
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944409
    reference: chr 1
allele count: 2
allele frequency: 1.754786179304052e-5
allele num: 113974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.254+26A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23770A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.202+26A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.371+26A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.254+26A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.322+26A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.333+26A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.303+26A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20365A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.254+26A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26390
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

1-63944423-TAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944423
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944420
    reference: chr 1
allele count: 1
allele frequency: 8.55549091406865e-6
allele num: 116884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.254+9_254+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.371+9_371+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.322+9_322+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20382_117-20380delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.254+9_254+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.254+9_254+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.333+9_333+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.303+9_303+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.202+9_202+11delGTT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23787_125-23785delGTT
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31601
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: TAAC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-63944432-TACTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944432
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944428
    reference: chr 1
allele count: 1
allele frequency: 8.448657508321927e-6
allele num: 118362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.321_322+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.253_254+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.332_333+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.370_371+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.253_254+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.253_254+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.201_202+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20392_117-20389delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.302_303+2delGAGT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23797_125-23794delGAGT
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 2.25e1
  variant carriers: 0
hgvs: c.370_371+2delGAGT
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TACTC
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-63944434-CTCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944431
    reference: chr 1
allele count: 2
allele frequency: 1.687080338765732e-5
allele num: 118548
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.369_371delTGA
  hgvsp: ENSP00000360133.3:p.Asp123del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.331_333delTGA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.320_322delTGA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.252_254delTGA
  hgvsp: ENSP00000283568.8:p.Asp84del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.301_303delTGA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.252_254delTGA
  hgvsp: ENSP00000271002.10:p.Asp84del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.252_254delTGA
  hgvsp: ENSP00000432904.1:p.Asp84del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.200_202delTGA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20393_117-20391delTGA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23798_125-23796delTGA
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33199
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp123del
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CTCA
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-63944439-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944439
    reference: chr 1
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23800G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.250G>T
  hgvsp: ENSP00000271002.10:p.Asp84Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.318G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.198G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.250G>T
  hgvsp: ENSP00000283568.8:p.Asp84Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.250G>T
  hgvsp: ENSP00000432904.1:p.Asp84Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20395G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.299G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.367G>T
  hgvsp: ENSP00000360133.3:p.Asp123Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.329G>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp123Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-63944439-CATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944436
    reference: chr 1
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.247_249delAAT
  hgvsp: ENSP00000432904.1:p.Asn83del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.195_197delAAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.326_328delAAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.364_366delAAT
  hgvsp: ENSP00000360133.3:p.Asn122del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.247_249delAAT
  hgvsp: ENSP00000283568.8:p.Asn83del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.296_298delAAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.247_249delAAT
  hgvsp: ENSP00000271002.10:p.Asn83del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.315_317delAAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20398_117-20396delAAT
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23803_125-23801delAAT
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15025
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn122del
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: CATT
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-63944440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944440
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944440
    reference: chr 1
allele count: 40
allele frequency: 3.35795836131632e-4
allele num: 119120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20396T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23801T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.197T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.366T>C
  hgvsp: ENST00000371092.3:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.328T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.249T>C
  hgvsp: ENST00000283568.8:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.249T>C
  hgvsp: ENST00000489099.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.249T>C
  hgvsp: ENST00000271002.10:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.317T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.298T>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33494
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15075
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4776
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn122Asn
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-63944441-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944441
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944441
    reference: chr 1
allele count: 1
allele frequency: 8.391796180054379e-6
allele num: 119164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.327A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.196A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.365A>G
  hgvsp: ENSP00000360133.3:p.Asn122Ser
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.248A>G
  hgvsp: ENSP00000271002.10:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.248A>G
  hgvsp: ENSP00000432904.1:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.297A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20397A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.248A>G
  hgvsp: ENSP00000283568.8:p.Asn83Ser
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.316A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23802A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn122Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-63944445-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944444
    reference: chr 1
allele count: 12
allele frequency: 1.005227181342983e-4
allele num: 119376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.311delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.243delA
  hgvsp: ENSP00000432904.1:p.Asp82ThrfsTer6
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.243delA
  hgvsp: ENSP00000283568.8:p.Asp82ThrfsTer6
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.360delA
  hgvsp: ENSP00000360133.3:p.Asp121ThrfsTer6
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23807delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.243delA
  hgvsp: ENSP00000271002.10:p.Asp82ThrfsTer6
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.322delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20402delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.191delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.292delA
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33626
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15235
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp121ThrfsTer6
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: CT
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-63944447-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944444
    reference: chr 1
allele count: 1
allele frequency: 8.371563473194253e-6
allele num: 119452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.239_241delCAA
  hgvsp: ENSP00000283568.8:p.Thr80del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.318_320delCAA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.356_358delCAA
  hgvsp: ENSP00000360133.3:p.Thr119del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.288_290delCAA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.239_241delCAA
  hgvsp: ENSP00000432904.1:p.Thr80del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23811_125-23809delCAA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.239_241delCAA
  hgvsp: ENSP00000271002.10:p.Thr80del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.187_189delCAA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20406_117-20404delCAA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.307_309delCAA
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33718
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr119del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: TTTG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-63944454-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944454
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944454
    reference: chr 1
allele count: 1
allele frequency: 8.35952651641811e-6
allele num: 119624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20410A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.235A>G
  hgvsp: ENSP00000271002.10:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.314A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.352A>G
  hgvsp: ENSP00000360133.3:p.Thr118Ala
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.235A>G
  hgvsp: ENSP00000283568.8:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.303A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.284A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.183A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23815A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.235A>G
  hgvsp: ENSP00000432904.1:p.Thr79Ala
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15361
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr118Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

1-63944455-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944455
    reference: chr 1
allele count: 1
allele frequency: 8.358827757995218e-6
allele num: 119634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.313T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.302T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20411T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23816T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.234T>A
  hgvsp: ENST00000489099.1:c.234T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.234T>A
  hgvsp: ENST00000271002.10:c.234T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.182T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.234T>A
  hgvsp: ENST00000283568.8:c.234T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.351T>A
  hgvsp: ENST00000371092.3:c.351T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.283T>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33783
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser117Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

1-63944457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944457
    reference: chr 1
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.180T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20413T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.232T>C
  hgvsp: ENSP00000283568.8:p.Ser78Pro
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.281T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23818T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.300T>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.349T>C
  hgvsp: ENSP00000360133.3:p.Ser117Pro
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.232T>C
  hgvsp: ENSP00000271002.10:p.Ser78Pro
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.232T>C
  hgvsp: ENSP00000432904.1:p.Ser78Pro
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.311T>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser117Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

1-63944471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944471
    reference: chr 1
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.286C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.267C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.297C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.166C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20427C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.218C>T
  hgvsp: ENSP00000283568.8:p.Thr73Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.218C>T
  hgvsp: ENSP00000271002.10:p.Thr73Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.335C>T
  hgvsp: ENSP00000360133.3:p.Thr112Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.218C>T
  hgvsp: ENSP00000432904.1:p.Thr73Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23832C>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33501
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr112Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-63944475-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944475
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944475
    reference: chr 1
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.162T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.331T>A
  hgvsp: ENSP00000360133.3:p.Leu111Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.282T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.293T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.214T>A
  hgvsp: ENSP00000283568.8:p.Leu72Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.263T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.214T>A
  hgvsp: ENSP00000271002.10:p.Leu72Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.214T>A
  hgvsp: ENSP00000432904.1:p.Leu72Ile
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23836T>A
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20431T>A
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu111Ile
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-63944481-GGTGATT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944475
    reference: chr 1
allele count: 1
allele frequency: 8.385462961410099e-6
allele num: 119254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.202_207delAATCAC
  hgvsp: ENSP00000271002.10:p.Asn68_His69del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.202_207delAATCAC
  hgvsp: ENSP00000432904.1:p.Asn68_His69del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.251_256delAATCAC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.281_286delAATCAC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.319_324delAATCAC
  hgvsp: ENSP00000360133.3:p.Asn107_His108del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.150_155delAATCAC
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.202_207delAATCAC
  hgvsp: ENSP00000283568.8:p.Asn68_His69del
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.270_275delAATCAC
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn107_His108del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: GGTGATT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-63944484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944484
    reference: chr 1
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.205C>T
  hgvsp: ENSP00000283568.8:p.His69Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20440C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.205C>T
  hgvsp: ENSP00000432904.1:p.His69Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23845C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.205C>T
  hgvsp: ENSP00000271002.10:p.His69Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.322C>T
  hgvsp: ENSP00000360133.3:p.His108Tyr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.153C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.273C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.254C>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.284C>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His108Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-63944486-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944486
    reference: chr 1
allele count: 3
allele frequency: 2.528487627267211e-5
allele num: 118648
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.320A>C
  hgvsp: ENSP00000360133.3:p.Asn107Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.203A>C
  hgvsp: ENSP00000283568.8:p.Asn68Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23847A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.203A>C
  hgvsp: ENSP00000432904.1:p.Asn68Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.203A>C
  hgvsp: ENSP00000271002.10:p.Asn68Thr
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.282A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.252A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.151A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.271A>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20442A>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn107Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-63944488-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944488
    reference: chr 1
allele count: 1
allele frequency: 8.429570934839416e-6
allele num: 118630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.280G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.269G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.201G>C
  hgvsp: ENSP00000283568.8:p.Leu67Phe
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23849G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.250G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20444G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.318G>C
  hgvsp: ENSP00000360133.3:p.Leu106Phe
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.149G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.201G>C
  hgvsp: ENSP00000271002.10:p.Leu67Phe
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.201G>C
  hgvsp: ENSP00000432904.1:p.Leu67Phe
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu106Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-63944490-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944490
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944489
    reference: chr 1
allele count: 2
allele frequency: 1.687934643170616e-5
allele num: 118488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.146delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.198delA
  hgvsp: ENSP00000432904.1:p.Lys66AsnfsTer2
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.198delA
  hgvsp: ENSP00000283568.8:p.Lys66AsnfsTer2
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.266delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.277delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.198delA
  hgvsp: ENSP00000271002.10:p.Lys66AsnfsTer2
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.247delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.315delA
  hgvsp: ENSP00000360133.3:p.Lys105AsnfsTer2
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20447delA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23852delA
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys105AsnfsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: AT
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

1-63944493-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944493
    reference: chr 1
allele count: 1
allele frequency: 8.490550017830155e-6
allele num: 117778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.144A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.196A>T
  hgvsp: ENSP00000432904.1:p.Lys66Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.245A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23854A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.313A>T
  hgvsp: ENSP00000360133.3:p.Lys105Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.196A>T
  hgvsp: ENSP00000271002.10:p.Lys66Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.264A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.196A>T
  hgvsp: ENSP00000283568.8:p.Lys66Ter
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20449A>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.275A>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys105Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-63944500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944500
    reference: chr 1
allele count: 1
allele frequency: 8.565603960735272e-6
allele num: 116746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.257G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.137G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.306G>C
  hgvsp: ENSP00000360133.3:p.Lys102Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.189G>C
  hgvsp: ENSP00000283568.8:p.Lys63Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.189G>C
  hgvsp: ENSP00000432904.1:p.Lys63Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.268G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20456G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.189G>C
  hgvsp: ENSP00000271002.10:p.Lys63Asn
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.238G>C
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23861G>C
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys102Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-63944502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944502
    reference: chr 1
allele count: 1
allele frequency: 8.61341280642216e-6
allele num: 116098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.255A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.266A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.304A>G
  hgvsp: ENSP00000360133.3:p.Lys102Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.236A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.187A>G
  hgvsp: ENSP00000283568.8:p.Lys63Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.135A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20458A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.187A>G
  hgvsp: ENSP00000432904.1:p.Lys63Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.187A>G
  hgvsp: ENSP00000271002.10:p.Lys63Glu
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23863A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys102Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-63944504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944504
    reference: chr 1
allele count: 1
allele frequency: 8.648723448419014e-6
allele num: 115624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.185A>G
  hgvsp: ENSP00000432904.1:p.Glu62Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.185A>G
  hgvsp: ENSP00000283568.8:p.Glu62Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.133A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23865A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.185A>G
  hgvsp: ENSP00000271002.10:p.Glu62Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.234A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.264A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.253A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.302A>G
  hgvsp: ENSP00000360133.3:p.Glu101Gly
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20460A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu101Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

1-63944510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944510
    reference: chr 1
allele count: 1
allele frequency: 8.755647392568207e-6
allele num: 114212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23871A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.133-6A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.253-6A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.302-6A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.264-6A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20466A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.234-6A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.185-6A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.185-6A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.185-6A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
hgvs: c.302-6A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-63944512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944512
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944512
    reference: chr 1
allele count: 6
allele frequency: 5.265837004791912e-5
allele num: 113942
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.302-8A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20468A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.185-8A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.264-8A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.253-8A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.133-8A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.185-8A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.185-8A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23873A>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.234-8A>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
hgvs: c.302-8A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-63944515-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944515
    reference: chr 1
allele count: 2
allele frequency: 1.766409948420829e-5
allele num: 113224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.253-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.234-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.185-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20471C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.302-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.264-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.185-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.133-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.185-11C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23876C>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-63944523-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944523
    reference: chr 1
allele count: 4
allele frequency: 3.594923967358091e-5
allele num: 111268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.185-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.234-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.185-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.133-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.185-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20479C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.253-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.264-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.302-19C>G
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23884C>G
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-63944532-ATAAAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944526
    reference: chr 1
allele count: 49
allele frequency: 4.491951156906604e-4
allele num: 109084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.133-34_133-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.264-34_264-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.185-34_185-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.185-34_185-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.253-34_253-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.234-34_234-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.302-34_302-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.185-34_185-29delACTTTA
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17236
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9553
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: ATAAAGT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-63944551-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63944551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 63944551
    reference: chr 1
allele count: 47
allele frequency: 4.728750804893754e-4
allele num: 99392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000271002
  ensembl transcript: ENST00000271002
  gene symbol: ITGB3BP
  hgvsc: ENST00000271002.10:c.185-47G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000432904
  ensembl transcript: ENST00000489099
  gene symbol: ITGB3BP
  hgvsc: ENST00000489099.1:c.185-47G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000360133
  ensembl transcript: ENST00000371092
  gene symbol: ITGB3BP
  hgvsc: ENST00000371092.3:c.302-47G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000476508
  gene symbol: ITGB3BP
  hgvsc: ENST00000476508.1:n.133-47G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl protein: ENSP00000283568
  ensembl transcript: ENST00000283568
  gene symbol: ITGB3BP
  hgvsc: ENST00000283568.8:c.185-47G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460394
  gene symbol: ITGB3BP
  hgvsc: ENST00000460394.1:n.234-47G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000489863
  gene symbol: ITGB3BP
  hgvsc: ENST00000489863.1:n.264-47G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000465781
  gene symbol: ITGB3BP
  hgvsc: ENST00000465781.1:n.117-20507G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000462285
  gene symbol: ITGB3BP
  hgvsc: ENST00000462285.1:n.125-23912G>T
  variant of: http://identifiers.org/hgnc/6157
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142856
  ensembl transcript: ENST00000460251
  gene symbol: ITGB3BP
  hgvsc: ENST00000460251.1:n.253-47G>T
  variant of: http://identifiers.org/hgnc/6157
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16236
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4254
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 2.357e1

VQSLOD
type: SiteQuality
SIO_000300: -2.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

FS
type: SiteQuality
SIO_000300: 2.155e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.699944e6

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1340
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 886
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 6.75e1
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: 16316
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512264464809606e-5
allele num: 66126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

VQSLOD
type: SiteQuality
SIO_000300: -1.405e0

FS
type: SiteQuality
SIO_000300: 9.058999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.682761e6

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 3.757e0

VQSLOD
type: SiteQuality
SIO_000300: -1.744e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.693e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

DP
type: SiteQuality
SIO_000300: 1.663095e6

GenotypeQuality
all individuals: 1330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51851064475962e-5
allele num: 65854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.645625e6

QD
type: SiteQuality
SIO_000300: 1.247e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.588e0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3982
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
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: 1.51851064475962e-5
allele num: 65854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.645625e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.641618e6

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.1684e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.474e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.741e1

GenotypeQuality
all individuals: 35788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.862105636299185e-5
allele num: 11284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.658e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.639224e6

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.147e0

GenotypeQuality
all individuals: 1174
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1319
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variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 2.339e1

DP
type: SiteQuality
SIO_000300: 1.628178e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.042e0

GenotypeQuality
all individuals: 1505
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 885
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.184291898577613e-5
allele num: 16170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.62691e6

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.139e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5358
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3539
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 333
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GenotypeQuality
all individuals: 366
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.137690094533498e-5
allele num: 38928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.988071570576541e-4
allele num: 5030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 9.90358e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

GenotypeQuality
all individuals: 1791
bin: 1.25e1
variant carriers: 131

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 194

GenotypeQuality
all individuals: 4076
bin: 6.25e1
variant carriers: 300

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 96

GenotypeQuality
all individuals: 14025
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variant carriers: 11769

GenotypeQuality
all individuals: 2529
bin: 7.5e0
variant carriers: 93

GenotypeQuality
all individuals: 2346
bin: 2.5e0
variant carriers: 32

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 265

GenotypeQuality
all individuals: 4141
bin: 3.75e1
variant carriers: 262

GenotypeQuality
all individuals: 5458
bin: 3.25e1
variant carriers: 334

GenotypeQuality
all individuals: 10448
bin: 2.25e1
variant carriers: 398

GenotypeQuality
all individuals: 1211
bin: 5.25e1
variant carriers: 260

GenotypeQuality
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variant carriers: 267

GenotypeQuality
all individuals: 968
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variant carriers: 136

GenotypeQuality
all individuals: 2322
bin: 4.75e1
variant carriers: 263

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 526

GenotypeQuality
all individuals: 1689
bin: 4.25e1
variant carriers: 134

Latino
type: Population
allele count: 837
allele frequency: 1.326465927099842e-1
allele num: 6310
num of homozygotes: 49

Other
type: Population
allele count: 117
allele frequency: 1.869009584664537e-1
allele num: 626
num of homozygotes: 15

European (Finnish)
type: Population
allele count: 1291
allele frequency: 2.571713147410359e-1
allele num: 5020
num of homozygotes: 164

European (Non-Finnish)
type: Population
allele count: 9788
allele frequency: 2.469970727768245e-1
allele num: 39628
num of homozygotes: 1154

East Asian
type: Population
allele count: 124
allele frequency: 2.111716621253406e-2
allele num: 5872
num of homozygotes: 0

African
type: Population
allele count: 302
allele frequency: 3.991541104943166e-2
allele num: 7566
num of homozygotes: 7

South Asian
type: Population
allele count: 978
allele frequency: 8.826714801444044e-2
allele num: 11080
num of homozygotes: 52

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.014275e6

QD
type: SiteQuality
SIO_000300: 1.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.93e-2

GenotypeQuality
all individuals: 4903
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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GenotypeQuality
all individuals: 702
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variant carriers: 0

GenotypeQuality
all individuals: 9617
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 5133
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GenotypeQuality
all individuals: 1330
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variant carriers: 0

GenotypeQuality
all individuals: 2763
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GenotypeQuality
all individuals: 17290
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.189413596263622e-4
allele num: 7708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.040419e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

GenotypeQuality
all individuals: 102
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1702
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 540
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GenotypeQuality
all individuals: 490
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.315565229472514e-5
allele num: 43186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.482e0

QD
type: SiteQuality
SIO_000300: 9.09e0

VQSLOD
type: SiteQuality
SIO_000300: -3.031e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.150924e6

GenotypeQuality
all individuals: 2087
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 30587
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GenotypeQuality
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 698
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GenotypeQuality
all individuals: 183
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GenotypeQuality
all individuals: 514
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GenotypeQuality
all individuals: 2134
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GenotypeQuality
all individuals: 14244
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GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13476
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.992e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 7.896e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 1.300119e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.139e0

VQSLOD
type: SiteQuality
SIO_000300: -8.195e-1

GenotypeQuality
all individuals: 512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
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GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 489
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GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 618
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GenotypeQuality
all individuals: 1023
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 3.494060097833683e-4
allele num: 8586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49928
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

FS
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SIO_000300: 0.0e0

VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.991555803393611e-5
allele num: 50212
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
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QD
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FS
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

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

Latino
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allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.386632859236956e-4
allele num: 50482
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
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allele count: 6
allele frequency: 1.051156271899089e-3
allele num: 5708
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

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

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

Other
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: 7404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.93700848409716e-5
allele num: 51626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.353486e6

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.845e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.659e-1

FS
type: SiteQuality
SIO_000300: 1.3912e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54500
num of homozygotes: 0

Other
type: Population
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5910
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Latino
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allele count: 1
allele frequency: 1.030502885408079e-4
allele num: 9704
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.228e0

InbreedingCoeff
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SIO_000300: -1.7e-3

MQRankSum
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -5.98e-1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 2.253267237494367e-4
allele num: 8876
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
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ClippingRankSum
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MQ
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QD
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 2.63e0

BaseQRankSum
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ReadPosRankSum
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SIO_000300: -3.68e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 6.38080653394589e-4
allele num: 7836
num of homozygotes: 0

South Asian
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African
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allele frequency: 1.124606387764283e-4
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European (Non-Finnish)
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Other
type: Population
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54836
num of homozygotes: 0

African
type: Population
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Other
type: Population
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Latino
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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East Asian
type: Population
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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DP
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

GenotypeQuality
all individuals: 470
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3176
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1011
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.5e0
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GenotypeQuality
all individuals: 1130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54114
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.379120121362571e-4
allele num: 14502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -9.298e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.393925e6

GenotypeQuality
all individuals: 703
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11941
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 36281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.897503103876396e-5
allele num: 14498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.849386003846723e-5
allele num: 54072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.409e0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 1.392033e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 9.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
all individuals: 475
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11941
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 2303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1030
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.698772007693446e-5
allele num: 54072
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.409e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.392033e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

QD
type: SiteQuality
SIO_000300: 9.65e0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

GenotypeQuality
all individuals: 398
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
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variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 521
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2275
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 515
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GenotypeQuality
all individuals: 3175
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variant carriers: 1

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.136880400181901e-4
allele num: 8796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.3801e6

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

MQ
type: SiteQuality
SIO_000300: 6.098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.611e1

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
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GenotypeQuality
all individuals: 366
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GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 1345
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variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 383
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GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 33910
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variant carriers: 0

GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 525
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GenotypeQuality
all individuals: 3175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.881821603312006e-5
allele num: 53140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 2.049e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.364652e6

GenotypeQuality
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 642
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
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variant carriers: 1

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073883161512027e-4
allele num: 9312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.448937939375614e-5
allele num: 52916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 1.357383e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

FS
type: SiteQuality
SIO_000300: 3.643e0

GenotypeQuality
all individuals: 3184
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 156
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2184
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 13
allele frequency: 1.500461680517082e-3
allele num: 8664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.824238020574401e-5
allele num: 52298
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.091941471937104e-4
allele num: 9158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.335477e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 21054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4600
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48166
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.690036900369004e-4
allele num: 8130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.140404e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e0

GenotypeQuality
all individuals: 361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
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GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20278
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6891
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.830831197363603e-4
allele num: 5462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.191828862002455e-5
allele num: 45624
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.256e1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 1.731e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

DP
type: SiteQuality
SIO_000300: 1.071539e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5183
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.576292559899117e-4
allele num: 6344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.030001e6

GenotypeQuality
all individuals: 1161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3168
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15026
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.970055161544523e-4
allele num: 5076
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

QD
type: SiteQuality
SIO_000300: 1.789e1

DP
type: SiteQuality
SIO_000300: 1.021122e6

GenotypeQuality
all individuals: 6360
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 367
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3186
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3570
bin: 9.75e1
variant carriers: 406

GenotypeQuality
all individuals: 2650
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 3.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 2.5e0
variant carriers: 2

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 13

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 20

South Asian
type: Population
allele count: 4
allele frequency: 3.297065611605671e-4
allele num: 12132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 101
allele frequency: 2.497897808774793e-3
allele num: 40434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 233
allele frequency: 4.487673343605547e-2
allele num: 5192
num of homozygotes: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 77
allele frequency: 1.267281105990783e-2
allele num: 6076
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.118210862619808e-2
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.324854266030737e-4
allele num: 7548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.541e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.016339e6

GenotypeQuality
all individuals: 13085
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
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variant carriers: 0

GenotypeQuality
all individuals: 3204
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variant carriers: 0

GenotypeQuality
all individuals: 2743
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variant carriers: 0

GenotypeQuality
all individuals: 4946
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variant carriers: 0

GenotypeQuality
all individuals: 4120
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GenotypeQuality
all individuals: 3158
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variant carriers: 1

GenotypeQuality
all individuals: 6140
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variant carriers: 0

GenotypeQuality
all individuals: 387
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GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 7311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.11954217888936e-4
allele num: 4718
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.473e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: -2.882e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

DP
type: SiteQuality
SIO_000300: 1.008227e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.246e0

GenotypeQuality
all individuals: 204
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1237
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4980
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
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variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 862
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variant carriers: 0

GenotypeQuality
all individuals: 447
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4555
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variant carriers: 0

GenotypeQuality
all individuals: 289
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GenotypeQuality
all individuals: 1062
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variant carriers: 0

GenotypeQuality
all individuals: 5095
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.654697686732634e-5
allele num: 60434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.39e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.461533e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

GenotypeQuality
all individuals: 279
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1732
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.75e1
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GenotypeQuality
all individuals: 1122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3813
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.898758981058132e-5
allele num: 61240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 6.03e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 1.554355e6

QD
type: SiteQuality
SIO_000300: 1.696e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeQuality
all individuals: 1151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 3835
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variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1024
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GenotypeQuality
all individuals: 279
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GenotypeQuality
all individuals: 440
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GenotypeQuality
all individuals: 245
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GenotypeQuality
all individuals: 4351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34101
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.118616144975288e-4
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.995e0

DP
type: SiteQuality
SIO_000300: 1.559549e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.901e0

QD
type: SiteQuality
SIO_000300: 1.499e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
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variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 2.75e1
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GenotypeQuality
all individuals: 1129
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GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 561
bin: 5.25e1
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GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34723
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variant carriers: 0

GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.22975330176925e-5
allele num: 16052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11010
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.487e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.565376e6

FS
type: SiteQuality
SIO_000300: 6.058e0

QD
type: SiteQuality
SIO_000300: 5.6e0

VQSLOD
type: SiteQuality
SIO_000300: -2.088e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61906612266045e-5
allele num: 61764
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
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SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 1.245e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.578147e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63756
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.651457e6

FS
type: SiteQuality
SIO_000300: 4.038e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.696e1

QD
type: SiteQuality
SIO_000300: 1.229e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.67656e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
SIO_000300: 3.136e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 7.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.081759068076058e-5
allele num: 64898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.680504e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 2.697e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.685e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65220
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

FS
type: SiteQuality
SIO_000300: 1.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 1.688726e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.555e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65220
num of homozygotes: 0

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: 892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.166e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.866e1

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

Other
type: Population
allele count: 1
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allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.895111814763506e-5
allele num: 10106
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8550
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South Asian
type: Population
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.514536932079287e-4
allele num: 65282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -8.0e-4

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.101e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531205977828137e-5
allele num: 65308
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.690194e6

ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
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SIO_000300: 1.89e0

VQSLOD
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FS
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MQRankSum
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SIO_000300: -4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

QD
type: SiteQuality
SIO_000300: 6.11e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65462
num of homozygotes: 0

South Asian
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allele count: 11
allele frequency: 6.724538452133513e-4
allele num: 16358
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 4.024e0

DP
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QD
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ClippingRankSum
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SIO_000300: 1.32e-1

BaseQRankSum
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SIO_000300: 8.159999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.032e1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52597204419215e-5
allele num: 65532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

MQRankSum
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SIO_000300: -4.49e-1

ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 7.73e-1

DP
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.69781e6

QD
type: SiteQuality
SIO_000300: 1.088e1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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DP
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FS
type: SiteQuality
SIO_000300: 7.06e0

ReadPosRankSum
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SIO_000300: 9.88e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16360
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
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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: 900
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.522811719558994e-5
allele num: 65668
num of homozygotes: 0

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

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

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

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.692748e6

MQ
type: SiteQuality
SIO_000300: 5.692e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -2.784e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

QD
type: SiteQuality
SIO_000300: 7.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529239050648397e-5
allele num: 65392
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.022e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.689566e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.870324189526185e-4
allele num: 16040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65154
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

FS
type: SiteQuality
SIO_000300: 4.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.057e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 1.681352e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.101e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 635
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GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534919416730622e-5
allele num: 65150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

FS
type: SiteQuality
SIO_000300: 3.721e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.68188e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536428725071444e-5
allele num: 65086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.659e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 1.833e0

MQ
type: SiteQuality
SIO_000300: 6.094e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.679738e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545499505440158e-5
allele num: 64704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8498
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.103e1

VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 1.664471e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.55850632753569e-5
allele num: 64164
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.64382e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.136e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 5.898e0

QD
type: SiteQuality
SIO_000300: 1.626e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.018744906275469e-4
allele num: 9816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63812
num of homozygotes: 0

Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 8.794e0

ReadPosRankSum
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SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.531e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

MQRankSum
type: SiteQuality
SIO_000300: -1.047e0

DP
type: SiteQuality
SIO_000300: 1.627505e6

GenotypeQuality
all individuals: 341
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573118550213944e-5
allele num: 63568
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.002e0

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.652e0

MQ
type: SiteQuality
SIO_000300: 5.685e1

DP
type: SiteQuality
SIO_000300: 1.61454e6

GenotypeQuality
all individuals: 3795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593777891113094e-5
allele num: 62744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.574032e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 2.195e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
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variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3859
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variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 9.75e1
variant carriers: 6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.586808551433228e-5
allele num: 62586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14832
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.959e0

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.566919e6

GenotypeQuality
all individuals: 1612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 262
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GenotypeQuality
all individuals: 35176
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variant carriers: 0

GenotypeQuality
all individuals: 603
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variant carriers: 0

GenotypeQuality
all individuals: 820
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 985
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variant carriers: 0

GenotypeQuality
all individuals: 9173
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variant carriers: 0

GenotypeQuality
all individuals: 3795
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 370
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variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.173708920187793e-3
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607872142007267e-5
allele num: 62194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.143e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.545553e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 5.86e0

GenotypeQuality
all individuals: 29763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 665
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 315
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GenotypeQuality
all individuals: 261
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variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
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variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.887585532746823e-4
allele num: 8184
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.214e0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

DP
type: SiteQuality
SIO_000300: 1.479126e6

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 4949
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
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variant carriers: 0

GenotypeQuality
all individuals: 20724
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variant carriers: 0

GenotypeQuality
all individuals: 654
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variant carriers: 0

GenotypeQuality
all individuals: 2782
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GenotypeQuality
all individuals: 3842
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 300
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1206
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2482
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variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.215189873417722e-3
allele num: 6320
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.297139521307647e-5
allele num: 13704
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.073191672032625e-4
allele num: 9318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 5.505138128920325e-4
allele num: 59944
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.3814e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 8.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2844
bin: 7.5e0
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GenotypeQuality
all individuals: 1856
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variant carriers: 0

GenotypeQuality
all individuals: 7900
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variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.5e0
variant carriers: 0