1-182908587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908587
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908587
    reference: chr 1
allele count: 1
allele frequency: 9.542895314438401e-6
allele num: 104790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.800+15T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1260T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.857+15T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.500+15T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12427
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

1-182908592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908592
    reference: chr 1
allele count: 1
allele frequency: 9.636882275846118e-6
allele num: 103768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.800+10G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1255G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.857+10G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.500+10G>A
  variant of: http://identifiers.org/hgnc/16788
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-182908595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908595
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908595
    reference: chr 1
allele count: 1
allele frequency: 9.671741106834053e-6
allele num: 103394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.800+7A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1252A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.500+7A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.857+7A>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12842
  bin: 2.25e1
  variant carriers: 0
hgvs: c.857+7A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-182908602-AAATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908598
    reference: chr 1
allele count: 221
allele frequency: 2.148091988880465e-3
allele num: 102882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1241_1244delAATT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.496_499delAATT
  hgvsp: ENSP00000397308.1:p.Asn166CysfsTer58
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.853_856delAATT
  hgvsp: ENSP00000356518.3:p.Asn285CysfsTer58
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.796_799delAATT
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 1.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22676
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13252
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn285CysfsTer58
num of homozygotes: 3
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: AAATT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

1-182908616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908616
    reference: chr 1
allele count: 1
allele frequency: 9.843100970529755e-6
allele num: 101594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.685A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1231A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.786A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.843A>G
  hgvsp: ENST00000367547.3:c.843A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.486A>G
  hgvsp: ENST00000423786.1:c.486A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24700
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu281Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-182908636-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908636
    reference: chr 1
allele count: 1
allele frequency: 1.001983928177792e-5
allele num: 99802
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.823A>G
  hgvsp: ENSP00000356518.3:p.Asn275Asp
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.466A>G
  hgvsp: ENSP00000397308.1:p.Asn156Asp
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.665A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.766A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1211A>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn275Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-182908638-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908638
    reference: chr 1
allele count: 1
allele frequency: 1.004036225627021e-5
allele num: 99598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1209A>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.764A>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.663A>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.821A>C
  hgvsp: ENSP00000356518.3:p.Glu274Ala
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.464A>C
  hgvsp: ENSP00000397308.1:p.Glu155Ala
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu274Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-182908642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908642
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908642
    reference: chr 1
allele count: 2
allele frequency: 2.019100692551537e-5
allele num: 99054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.659T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1205T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.460T>C
  hgvsp: ENSP00000397308.1:p.Cys154Arg
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.760T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.817T>C
  hgvsp: ENSP00000356518.3:p.Cys273Arg
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys273Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-182908648-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908648
    reference: chr 1
allele count: 1
allele frequency: 1.017749552190197e-5
allele num: 98256
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.811G>T
  hgvsp: ENSP00000356518.3:p.Glu271Ter
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.653G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.754G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1199G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.454G>T
  hgvsp: ENSP00000397308.1:p.Glu152Ter
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu271Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

1-182908653-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908653
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908653
    reference: chr 1
allele count: 2
allele frequency: 2.05642839516328e-5
allele num: 97256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.648A>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.449A>C
  hgvsp: ENSP00000397308.1:p.Asp150Ala
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.749A>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1194A>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.806A>C
  hgvsp: ENSP00000356518.3:p.Asp269Ala
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp269Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-182908680-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908681
    reference: chr 1
allele count: 2
allele frequency: 2.355546133371022e-5
allele num: 84906
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.421dupT
  hgvsp: ENSP00000397308.1:p.Tyr141LeufsTer2
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.620dupT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1166dupT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.778dupT
  hgvsp: ENSP00000356518.3:p.Tyr260LeufsTer2
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.721dupT
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr260LeufsTer2
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-182908681-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908681
    reference: chr 1
allele count: 1
allele frequency: 1.174342955116612e-5
allele num: 85154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.620T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.421T>A
  hgvsp: ENSP00000397308.1:p.Tyr141Asn
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.721T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.778T>A
  hgvsp: ENSP00000356518.3:p.Tyr260Asn
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1166T>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr260Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-182908684-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908684
    reference: chr 1
allele count: 1
allele frequency: 1.205894411885295e-5
allele num: 82926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.775T>A
  hgvsp: ENSP00000356518.3:p.Phe259Ile
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.718T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1163T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.617T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.418T>A
  hgvsp: ENSP00000397308.1:p.Phe140Ile
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27494
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe259Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-182908688-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908688
    reference: chr 1
allele count: 4
allele frequency: 4.962779156327543e-5
allele num: 80600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771G>T
  hgvsp: ENSP00000356518.3:p.Arg257Ser
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414G>T
  hgvsp: ENSP00000397308.1:p.Arg138Ser
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17804
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg257Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-182908690-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908690
    reference: chr 1
allele count: 16
allele frequency: 2.013743801444861e-4
allele num: 79454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-2A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-2A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-2A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-2A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-2A>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18376
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
hgvs: c.771-2A>G
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

1-182908692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908692
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908692
    reference: chr 1
allele count: 2
allele frequency: 2.571288987169268e-5
allele num: 77782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-4G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-4G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-4G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-4G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-4G>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29056
  bin: 2.25e1
  variant carriers: 0
hgvs: c.771-4G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-182908693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908693
    reference: chr 1
allele count: 1
allele frequency: 1.300457761131919e-5
allele num: 76896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-5C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-5C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-5C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-5C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-5C>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19182
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.25e1
  variant carriers: 1
hgvs: c.771-5C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-182908697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908697
    reference: chr 1
allele count: 190
allele frequency: 2.57864878803507e-3
allele num: 73682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-9T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-9T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-9T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-9T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-9T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20045
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18276
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10222
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 9.75e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-182908709-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908709
    reference: chr 1
allele count: 1
allele frequency: 1.550339524355834e-5
allele num: 64502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-21T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-21T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-21T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-21T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-21T>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-182908713-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908713
    reference: chr 1
allele count: 3
allele frequency: 4.901800594751806e-5
allele num: 61202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-25G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-25G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-25G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-25G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-25G>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19679
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20220
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-182908714-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908714
    reference: chr 1
allele count: 1
allele frequency: 1.665889251682548e-5
allele num: 60028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-26T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-26T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-26T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-26T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-26T>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-182908716-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908716
    reference: chr 1
allele count: 5
allele frequency: 8.510928031592565e-5
allele num: 58748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-28A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-28A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-28A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-28A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-28A>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19166
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20550
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-182908719-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908719
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908719
    reference: chr 1
allele count: 9
allele frequency: 1.607544743328689e-4
allele num: 55986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-31A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-31A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-31A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-31A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-31A>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18425
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20652
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-182908720-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908720
    reference: chr 1
allele count: 5
allele frequency: 9.453225440520305e-5
allele num: 52892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-32G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-32G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-32G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-32G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-32G>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20813
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-182908720-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908720
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908719
    reference: chr 1
allele count: 1
allele frequency: 1.890645088104061e-5
allele num: 52892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-33delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-33delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-33delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-33delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-33delT
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: CA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-182908725-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908725
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908725
    reference: chr 1
allele count: 712
allele frequency: 1.425767952260803e-2
allele num: 49938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-37T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-37T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-37T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-37T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-37T>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 1.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 21374
  bin: 7.5e0
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 16625
  bin: 1.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 20004
  bin: 2.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 9.75e1
  variant carriers: 510
genotype quality: GenotypeQuality
  all individuals: 9238
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 6.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 1.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 2.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 10
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-182908726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182908726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182908726
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 55352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.613-38G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.771-38G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1159-38G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.414-38G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.714-38G>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22351
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-182909417-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909417
    reference: chr 1
allele count: 1
allele frequency: 8.452085129401424e-6
allele num: 118314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.713+47G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.770+47G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.612+47G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.413+47G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1158+47G>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-182909429-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909429
    reference: chr 1
allele count: 2
allele frequency: 1.683898561950628e-5
allele num: 118772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1158+35T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.413+35T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.612+35T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.713+35T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.770+35T>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18895
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-182909437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909437
    reference: chr 1
allele count: 1
allele frequency: 8.372544751251695e-6
allele num: 119438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.413+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.770+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.713+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1158+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.612+27T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-182909445-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909445
    reference: chr 1
allele count: 3
allele frequency: 2.493268175925002e-5
allele num: 120324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.612+19T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1158+19T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.770+19T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.413+19T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.713+19T>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-182909452-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909452
    reference: chr 1
allele count: 29
allele frequency: 2.395981360917413e-4
allele num: 121036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.713+12T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.770+12T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1158+12T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.413+12T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.612+12T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 25737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-182909457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909457
    reference: chr 1
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.713+7G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.612+7G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.413+7G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1158+7G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.770+7G>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
hgvs: c.770+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-182909471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909471
    reference: chr 1
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.605G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1151G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.706G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.406G>A
  hgvsp: ENSP00000397308.1:p.Val136Ile
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.763G>A
  hgvsp: ENSP00000356518.3:p.Val255Ile
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val255Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-182909479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909479
    reference: chr 1
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.398C>T
  hgvsp: ENSP00000397308.1:p.Ala133Val
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1143C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.755C>T
  hgvsp: ENSP00000356518.3:p.Ala252Val
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.698C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.597C>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala252Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-182909488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909488
    reference: chr 1
allele count: 675
allele frequency: 5.560315002141751e-3
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.689T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1134T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.588T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.746T>C
  hgvsp: ENSP00000356518.3:p.Ile249Thr
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.389T>C
  hgvsp: ENSP00000397308.1:p.Ile130Thr
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 25836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21700
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile249Thr
num of homozygotes: 16
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-182909497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909497
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.737T>C
  hgvsp: ENSP00000356518.3:p.Ile246Thr
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.380T>C
  hgvsp: ENSP00000397308.1:p.Ile127Thr
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.579T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1125T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.680T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile246Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-182909555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909555
    reference: chr 1
allele count: 19
allele frequency: 1.565203064502842e-4
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.679C>T
  hgvsp: ENST00000367547.3:c.679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1067C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.322C>T
  hgvsp: ENST00000423786.1:c.322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.622C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.521C>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26208
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu227Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

1-182909572-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909572
    reference: chr 1
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.605A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.504A>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.305A>T
  hgvsp: ENSP00000397308.1:p.Asp102Val
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.662A>T
  hgvsp: ENSP00000356518.3:p.Asp221Val
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1050A>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp221Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-182909578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909578
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909578
    reference: chr 1
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.656T>C
  hgvsp: ENSP00000356518.3:p.Leu219Ser
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.599T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1044T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.299T>C
  hgvsp: ENSP00000397308.1:p.Leu100Ser
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.498T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu219Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-182909584-CTTGGAATATTTGCAATG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909567
    reference: chr 1
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsp: ENSP00000397308.1:p.Asn92LysfsTer5
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsp: ENSP00000356518.3:p.Asn211LysfsTer5
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9384
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn211LysfsTer5
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: CTTGGAATATTTGCAATG
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-182909588-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909588
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909588
    reference: chr 1
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.589C>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.488C>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.289C>G
  hgvsp: ENSP00000397308.1:p.Pro97Ala
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.646C>G
  hgvsp: ENSP00000356518.3:p.Pro216Ala
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1034C>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9378
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro216Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

1-182909597-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909597
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909597
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.479G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.280G>C
  hgvsp: ENSP00000397308.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.637G>C
  hgvsp: ENSP00000356518.3:p.Ala213Pro
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.580G>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1025G>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala213Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-182909598-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909598
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.636T>C
  hgvsp: ENST00000367547.3:c.636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1024T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.279T>C
  hgvsp: ENST00000423786.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.579T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.478T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile212Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-182909599-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909599
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909599
    reference: chr 1
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.635T>C
  hgvsp: ENSP00000356518.3:p.Ile212Thr
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.477T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.278T>C
  hgvsp: ENSP00000397308.1:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.578T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1023T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile212Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-182909608-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909606
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.267_268delTT
  hgvsp: ENSP00000397308.1:p.Ser90PhefsTer12
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.567_568delTT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1012_1013delTT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.624_625delTT
  hgvsp: ENSP00000356518.3:p.Ser209PhefsTer12
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.466_467delTT
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser209PhefsTer12
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GAA
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

1-182909612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909612
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909612
    reference: chr 1
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.265T>C
  hgvsp: ENSP00000397308.1:p.Phe89Leu
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.1010T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.565T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.622T>C
  hgvsp: ENSP00000356518.3:p.Phe208Leu
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.464T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe208Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

1-182909631-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909631
    reference: chr 1
allele count: 4
allele frequency: 3.311258278145695e-5
allele num: 120800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.546T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.246T>C
  hgvsp: ENST00000423786.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.991T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.603T>C
  hgvsp: ENST00000367547.3:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.445T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr201Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-182909636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909636
    reference: chr 1
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.986G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.541G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.440G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.598G>A
  hgvsp: ENSP00000356518.3:p.Val200Ile
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.241G>A
  hgvsp: ENSP00000397308.1:p.Val81Ile
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val200Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-182909640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909640
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909640
    reference: chr 1
allele count: 2
allele frequency: 1.660522732556209e-5
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.982C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.237C>T
  hgvsp: ENST00000423786.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.594C>T
  hgvsp: ENST00000367547.3:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.436C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.537C>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26117
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe198Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS

1-182909644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909644
    reference: chr 1
allele count: 3
allele frequency: 2.493351063829787e-5
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.590G>A
  hgvsp: ENSP00000356518.3:p.Arg197His
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.233G>A
  hgvsp: ENSP00000397308.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.533G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.432G>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.978G>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg197His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-182909645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909645
    reference: chr 1
allele count: 2
allele frequency: 1.663312320154355e-5
allele num: 120242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.232C>T
  hgvsp: ENSP00000397308.1:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.977C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.431C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.532C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.589C>T
  hgvsp: ENSP00000356518.3:p.Arg197Cys
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg197Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

1-182909646-AGAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909646
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909643
    reference: chr 1
allele count: 4
allele frequency: 3.326237360298031e-5
allele num: 120256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.528_530delATC
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.585_587delATC
  hgvsp: ENSP00000356518.3:p.Ser196del
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.973_975delATC
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.427_429delATC
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.228_230delATC
  hgvsp: ENSP00000397308.1:p.Ser77del
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser196del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: AGAT
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-182909647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909647
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909647
    reference: chr 1
allele count: 9
allele frequency: 7.488392990864161e-5
allele num: 120186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.230C>T
  hgvsp: ENSP00000397308.1:p.Ser77Phe
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.530C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.975C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.587C>T
  hgvsp: ENSP00000356518.3:p.Ser196Phe
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.429C>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser196Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

1-182909660-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909660
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909660
    reference: chr 1
allele count: 3
allele frequency: 2.522916491464133e-5
allele num: 118910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.416C>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.217C>A
  hgvsp: ENSP00000397308.1:p.Gln73Lys
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.574C>A
  hgvsp: ENSP00000356518.3:p.Gln192Lys
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.962C>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.517C>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln192Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/1-182909678-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909678
    reference: chr 1
allele count: 1
allele frequency: 8.943743851176102e-6
allele num: 111810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.499G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.944G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.556G>T
  hgvsp: ENSP00000356518.3:p.Val186Leu
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.398G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.199G>T
  hgvsp: ENSP00000397308.1:p.Val67Leu
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14023
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val186Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-182909693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909693
    reference: chr 1
allele count: 3
allele frequency: 3.11921645282705e-5
allele num: 96178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.944-15T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.398-15T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.199-15T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.556-15T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.499-15T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24369
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-182909694-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909692
    reference: chr 1
allele count: 1
allele frequency: 1.040236341696834e-5
allele num: 96132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.199-18_199-17delTT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.556-18_556-17delTT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.398-18_398-17delTT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.944-18_944-17delTT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.499-18_499-17delTT
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: TAA
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-182909710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909710
    reference: chr 1
allele count: 3
allele frequency: 3.457097421005324e-5
allele num: 86778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.398-32A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.944-32A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.499-32A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.556-32A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.199-32A>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26462
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

1-182909712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909712
    reference: chr 1
allele count: 1
allele frequency: 1.156390212313243e-5
allele num: 86476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.499-34C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.398-34C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.944-34C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.556-34C>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.199-34C>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

1-182909716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909716
    reference: chr 1
allele count: 1
allele frequency: 1.292991983449703e-5
allele num: 77340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.556-38A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.944-38A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.499-38A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.398-38A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.199-38A>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

1-182909721-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182909721
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182909721
    reference: chr 1
allele count: 2
allele frequency: 2.612261957629111e-5
allele num: 76562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.398-43T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.944-43T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.556-43T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.199-43T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.499-43T>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-182920409-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920409
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920409
    reference: chr 1
allele count: 1
allele frequency: 9.551463284175136e-6
allele num: 104696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+44T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+44T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+44T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+44T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+44T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+44T>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6971
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/1-182920426-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920426
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920426
    reference: chr 1
allele count: 3
allele frequency: 2.79678556112841e-5
allele num: 107266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+27T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+27T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+27T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+27T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+27T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+27T>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6823
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-182920426-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920426
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920426
    reference: chr 1
allele count: 1
allele frequency: 9.322618537094698e-6
allele num: 107266
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+27T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+27T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-182920430-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920430
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920430
    reference: chr 1
allele count: 2
allele frequency: 1.845665454679685e-5
allele num: 108362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+23T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+23T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+23T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+23T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+23T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+23T>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-182920432-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920432
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920431
    reference: chr 1
allele count: 1
allele frequency: 9.184423218221895e-6
allele num: 108880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+20delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+20delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+20delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+20delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+20delT
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+20delT
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
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: GA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-182920437-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920437
    reference: chr 1
allele count: 1
allele frequency: 9.010632546404758e-6
allele num: 110980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+16T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+16T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+16T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+16T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+16T>A
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+16T>A
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

1-182920439-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920439
    reference: chr 1
allele count: 2
allele frequency: 1.790702671728386e-5
allele num: 111688
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+14A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+14A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+14A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+14A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+14A>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+14A>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-182920447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920447
    reference: chr 1
allele count: 1
allele frequency: 8.745845723281442e-6
allele num: 114340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+6T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+6T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+6T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+6T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+6T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+6T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 9.75e1
  variant carriers: 1
hgvs: c.555+6T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-182920451-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920451
    reference: chr 1
allele count: 2
allele frequency: 1.727533427771827e-5
allele num: 115772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+2T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+2T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+2T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+2T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+2T>G
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+2T>G
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 2.25e1
  variant carriers: 0
hgvs: c.555+2T>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/1-182920452-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920452
    reference: chr 1
allele count: 2
allele frequency: 1.721348159878817e-5
allele num: 116188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.198+1G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.555+1G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.581+1G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.397+1G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.498+1G>T
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.943+1G>T
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37927
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
hgvs: c.555+1G>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

1-182920465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920465
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920465
    reference: chr 1
allele count: 2788
allele frequency: 2.339436454260158e-2
allele num: 119174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.931T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.486T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.385T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.186T>C
  hgvsp: ENST00000423786.1:c.186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.543T>C
  hgvsp: ENST00000367547.3:c.543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.569T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 37471
  bin: 2.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 2.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44991
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5386
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly181Gly
num of homozygotes: 119
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-182920468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182920468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 182920468
    reference: chr 1
allele count: 1
allele frequency: 8.367640660039494e-6
allele num: 119508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000397308
  ensembl transcript: ENST00000423786
  gene symbol: SHCBP1L
  hgvsc: ENST00000423786.1:c.183T>C
  hgvsp: ENST00000423786.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000497549
  gene symbol: SHCBP1L
  hgvsc: ENST00000497549.2:n.566T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157060
  ensembl protein: ENSP00000356518
  ensembl transcript: ENST00000367547
  gene symbol: SHCBP1L
  hgvsc: ENST00000367547.3:c.540T>C
  hgvsp: ENST00000367547.3:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000488956
  gene symbol: SHCBP1L
  hgvsc: ENST00000488956.1:n.928T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000467208
  gene symbol: SHCBP1L
  hgvsc: ENST00000467208.1:n.382T>C
  variant of: http://identifiers.org/hgnc/16788
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000157060
  ensembl transcript: ENST00000483655
  gene symbol: SHCBP1L
  hgvsc: ENST00000483655.1:n.483T>C
  variant of: http://identifiers.org/hgnc/16788
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val180Val
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.790317960469779e-5
allele num: 55856
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.171113e6

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.454e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

GenotypeQuality
all individuals: 2394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.810806895552658e-5
allele num: 55224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8255e1

VQSLOD
type: SiteQuality
SIO_000300: -2.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

DP
type: SiteQuality
SIO_000300: 1.166646e6

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14806
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.312680493567866e-4
allele num: 7618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54980
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

FS
type: SiteQuality
SIO_000300: 1.111e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.163188e6

QD
type: SiteQuality
SIO_000300: 1.216e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 1924
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 999
bin: 9.75e1
variant carriers: 221

GenotypeQuality
all individuals: 27524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10612
num of homozygotes: 0

East Asian
type: Population
allele count: 218
allele frequency: 2.843725541351422e-2
allele num: 7666
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.41779497098646e-4
allele num: 8272
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.779661016949152e-5
allele num: 14750
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 1.167476e6

MQ
type: SiteQuality
SIO_000300: 5.702e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeQuality
all individuals: 2392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53736
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.229105211406096e-4
allele num: 8136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14636
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.176327e6

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 9.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.901646826151447e-5
allele num: 52586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.751e0

QD
type: SiteQuality
SIO_000300: 1.475e1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

DP
type: SiteQuality
SIO_000300: 1.186653e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

GenotypeQuality
all individuals: 577
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.906577693040991e-5
allele num: 52450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.385e0

DP
type: SiteQuality
SIO_000300: 1.186152e6

FS
type: SiteQuality
SIO_000300: 1.3366e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.866e1

QD
type: SiteQuality
SIO_000300: 5.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.732e0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 444
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.837740338488698e-5
allele num: 52114
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.182193e6

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: -3.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 1458
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.998880179171333e-5
allele num: 14288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.175676e6

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.385e0

VQSLOD
type: SiteQuality
SIO_000300: -1.871e0

QD
type: SiteQuality
SIO_000300: 6.15e0

FS
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.054e0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51002
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.409840688002256e-4
allele num: 14186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.368e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.163958e6

QD
type: SiteQuality
SIO_000300: 1.47e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 725
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.287596650958503e-5
allele num: 43714
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.556178026766262e-4
allele num: 6426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 9.99863e5

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 5.42e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.27894257064722e-5
allele num: 43880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.973e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

FS
type: SiteQuality
SIO_000300: 2.077e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -2.831e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

MQRankSum
type: SiteQuality
SIO_000300: -1.299e0

DP
type: SiteQuality
SIO_000300: 9.98407e5

GenotypeQuality
all individuals: 292
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.343347237193607e-5
allele num: 42674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12680
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.218e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 9.53139e5

GenotypeQuality
all individuals: 16132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28365
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.666505558240696e-5
allele num: 41380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.19526e5

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

QD
type: SiteQuality
SIO_000300: 1.102e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

GenotypeQuality
all individuals: 570
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 309
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40754
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 2.665778073975342e-3
allele num: 6002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12290
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 1.306e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 8.98637e5

GenotypeQuality
all individuals: 3328
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.393281303020021e-4
allele num: 5894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.77749e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 1.138e0

VQSLOD
type: SiteQuality
SIO_000300: -9.122e-1

QD
type: SiteQuality
SIO_000300: 5.45e0

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.548939641109299e-5
allele num: 39232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

FS
type: SiteQuality
SIO_000300: 1.609e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.163e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

DP
type: SiteQuality
SIO_000300: 8.6524e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.28e0

GenotypeQuality
all individuals: 1025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 898
bin: 1.25e1
variant carriers: 2

Latino
type: Population
allele count: 22
allele frequency: 2.741774675972084e-3
allele num: 8024
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 2.205258693808312e-3
allele num: 11790
num of homozygotes: 0

East Asian
type: Population
allele count: 115
allele frequency: 2.051373528362469e-2
allele num: 5606
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 3.322259136212625e-3
allele num: 602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.267573696145125e-4
allele num: 4410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 6.420545746388443e-4
allele num: 37380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 8.14779e5

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

FS
type: SiteQuality
SIO_000300: 1.373e0

QD
type: SiteQuality
SIO_000300: 1.306e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.988862370723946e-4
allele num: 5028
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

DP
type: SiteQuality
SIO_000300: 7.07997e5

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 7.371e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.007996774410322e-4
allele num: 29762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
SIO_000300: 1.341e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 6.87016e5

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4634
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2126
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.465243606625546e-5
allele num: 28858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

DP
type: SiteQuality
SIO_000300: 6.75313e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 7.84e0

FS
type: SiteQuality
SIO_000300: 7.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -1.991e0

GenotypeQuality
all individuals: 4352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.783548548191482e-4
allele num: 28034
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.775e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.634e0

DP
type: SiteQuality
SIO_000300: 6.68744e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 10123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 529
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 6.967022758941013e-4
allele num: 4306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.281021897810219e-4
allele num: 26304
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.52254e5

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.271e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 728
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.182636445462728e-5
allele num: 24442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 7.473841554559044e-4
allele num: 4014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.087e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

DP
type: SiteQuality
SIO_000300: 6.40936e5

FS
type: SiteQuality
SIO_000300: 4.9155e1

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

QD
type: SiteQuality
SIO_000300: 1.593e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.595e0

GenotypeQuality
all individuals: 180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3936
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.091318222731364e-5
allele num: 24442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

DP
type: SiteQuality
SIO_000300: 6.40936e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.087e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.593e1

FS
type: SiteQuality
SIO_000300: 4.9155e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.595e0

GenotypeQuality
all individuals: 158
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 746
bin: 4.25e1
variant carriers: 22

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 20

GenotypeQuality
all individuals: 2379
bin: 3.75e1
variant carriers: 23

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 25

European (Non-Finnish)
type: Population
allele count: 501
allele frequency: 2.229441082235671e-2
allele num: 22472
num of homozygotes: 1

Latino
type: Population
allele count: 14
allele frequency: 2.215891104779993e-3
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 133
allele frequency: 3.639846743295019e-2
allele num: 3654
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 7.532467532467533e-3
allele num: 3850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 6.462984723854289e-3
allele num: 3404
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 2.450980392156863e-2
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.051261187957689e-4
allele num: 9832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.97593e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.454e0

VQSLOD
type: SiteQuality
SIO_000300: -1.799e2

QD
type: SiteQuality
SIO_000300: 5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

DP
type: SiteQuality
SIO_000300: 6.55649e5

GenotypeQuality
all individuals: 565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 6.74456e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.588e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.689e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
all individuals: 8830
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2005
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34644
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.476683937823834e-5
allele num: 15440
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.532e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: -7.316e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 8.659000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 1.53242e6

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

GenotypeQuality
all individuals: 1694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 521
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.031694433157253e-4
allele num: 9844
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
type: SiteQuality
SIO_000300: 1.573026e6

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

QD
type: SiteQuality
SIO_000300: 1.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
all individuals: 9098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 15902
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.401e0

DP
type: SiteQuality
SIO_000300: 1.595575e6

VQSLOD
type: SiteQuality
SIO_000300: -3.912e0

FS
type: SiteQuality
SIO_000300: 8.090999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQRankSum
type: SiteQuality
SIO_000300: -3.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.518480585595084e-5
allele num: 66394
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.532e1

FS
type: SiteQuality
SIO_000300: 1.275e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.611987e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 1982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 1723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

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

African
type: Population
allele count: 28
allele frequency: 2.711601781909742e-3
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

QD
type: SiteQuality
SIO_000300: 1.496e1

DP
type: SiteQuality
SIO_000300: 1.621867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.928640308582449e-4
allele num: 10370
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.622808e6

FS
type: SiteQuality
SIO_000300: 2.628e0

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

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

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

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.784e0

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.624828e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9369
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45413
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 9.73e0

FS
type: SiteQuality
SIO_000300: 1.182e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.226e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.625264e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

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

GenotypeQuality
all individuals: 1642
bin: 9.75e1
variant carriers: 659

GenotypeQuality
all individuals: 527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9298
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 261
allele frequency: 3.01594638317541e-2
allele num: 8654
num of homozygotes: 8

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

Latino
type: Population
allele count: 10
allele frequency: 8.637070305752289e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 156
allele frequency: 1.499135114357102e-2
allele num: 10406
num of homozygotes: 4

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 241
allele frequency: 1.460252060106641e-2
allele num: 16504
num of homozygotes: 4

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

FS
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 1.675244e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.82e-2

QD
type: SiteQuality
SIO_000300: 1.414e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.162000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

DP
type: SiteQuality
SIO_000300: 1.624235e6

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1986
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 19
allele frequency: 1.825869690563137e-3
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.434e1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

DP
type: SiteQuality
SIO_000300: 1.625473e6

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

GenotypeQuality
all individuals: 1986
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 9.75e1
variant carriers: 1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.543e1

VQSLOD
type: SiteQuality
SIO_000300: -4.009e-1

FS
type: SiteQuality
SIO_000300: 8.404e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.603e0

DP
type: SiteQuality
SIO_000300: 1.623852e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 1.084e0

DP
type: SiteQuality
SIO_000300: 1.623581e6

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.916e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.107e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 1712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: -4.993e0

MQ
type: SiteQuality
SIO_000300: 5.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.032e0

FS
type: SiteQuality
SIO_000300: 6.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.623391e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.259e0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.565e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 1.62323e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9373
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.71e1

VQSLOD
type: SiteQuality
SIO_000300: -9.859999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 6.021e0

DP
type: SiteQuality
SIO_000300: 1.622715e6

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 1986
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.349e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 1.4589e1

VQSLOD
type: SiteQuality
SIO_000300: -2.038e0

DP
type: SiteQuality
SIO_000300: 1.622704e6

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

DP
type: SiteQuality
SIO_000300: 1.622641e6

FS
type: SiteQuality
SIO_000300: 1.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.622095e6

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQ
type: SiteQuality
SIO_000300: 6.061e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

QD
type: SiteQuality
SIO_000300: 1.255e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 3.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9345
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1966
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.384e1

QD
type: SiteQuality
SIO_000300: 1.904e1

VQSLOD
type: SiteQuality
SIO_000300: -6.114000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.667e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.621776e6

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1946
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.025366794203597e-5
allele num: 66386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 1.616546e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.534e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 2.164e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.973e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.198e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.905e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.614426e6

VQSLOD
type: SiteQuality
SIO_000300: -3.845e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

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

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9264
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.957713390759593e-4
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

DP
type: SiteQuality
SIO_000300: 1.611196e6

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.064e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.281e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.538852578068264e-5
allele num: 66096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

DP
type: SiteQuality
SIO_000300: 1.609428e6

FS
type: SiteQuality
SIO_000300: 5.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.356e-1

QD
type: SiteQuality
SIO_000300: 1.942e1

GenotypeQuality
all individuals: 1657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9219
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.033e1

DP
type: SiteQuality
SIO_000300: 1.607875e6

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.055834796826743e-5
allele num: 66052
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: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

FS
type: SiteQuality
SIO_000300: 1.9112e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

MQ
type: SiteQuality
SIO_000300: 5.549e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.607593e6

QD
type: SiteQuality
SIO_000300: 3.038e1

VQSLOD
type: SiteQuality
SIO_000300: -1.581e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66002
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.487135715156688e-4
allele num: 16402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.524e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 5.399e0

DP
type: SiteQuality
SIO_000300: 1.606899e6

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.598546859192495e-5
allele num: 65238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

QD
type: SiteQuality
SIO_000300: 3.15e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.584571e6

FS
type: SiteQuality
SIO_000300: 3.206e0

VQSLOD
type: SiteQuality
SIO_000300: -3.274e0

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.491820306413918e-5
allele num: 15404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.431458e6

FS
type: SiteQuality
SIO_000300: 6.52e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.418e0

VQSLOD
type: SiteQuality
SIO_000300: -6.404e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.333e0

GenotypeQuality
all individuals: 287
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4172
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.294330830960394e-4
allele num: 7726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.11954217888936e-4
allele num: 9436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.00161e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 6.068e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

GenotypeQuality
all individuals: 13185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.060220525869381e-4
allele num: 9432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.99344e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 2.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.995e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.384880602732728e-5
allele num: 46986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.766e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

DP
type: SiteQuality
SIO_000300: 8.32877e5

QD
type: SiteQuality
SIO_000300: 1.921e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26003
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.134745111433695e-5
allele num: 46844
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5534
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.3086e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

QD
type: SiteQuality
SIO_000300: 8.83e0

VQSLOD
type: SiteQuality
SIO_000300: -2.404e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.684e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.399923202457521e-5
allele num: 41668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 7.64025e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.651e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.588e0

QD
type: SiteQuality
SIO_000300: 2.329e1

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21037
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4230
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: 2
allele frequency: 4.849660523763336e-5
allele num: 41240
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.55037e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

QD
type: SiteQuality
SIO_000300: 1.537e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
all individuals: 742
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 18196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.417508417508418e-5
allele num: 11880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

FS
type: SiteQuality
SIO_000300: 3.651e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
SIO_000300: 1.16131e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.62e1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 1186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.362022592791823e-5
allele num: 59488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.01153661272232e-5
allele num: 12482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.184e1

DP
type: SiteQuality
SIO_000300: 1.294047e6

FS
type: SiteQuality
SIO_000300: 6.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

GenotypeQuality
all individuals: 1186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6823
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.01153661272232e-5
allele num: 12482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

DP
type: SiteQuality
SIO_000300: 1.294047e6

FS
type: SiteQuality
SIO_000300: 6.4e0

QD
type: SiteQuality
SIO_000300: 1.184e1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
all individuals: 4631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.807337791433219e-4
allele num: 11066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.326978e6

QD
type: SiteQuality
SIO_000300: 1.081e1

FS
type: SiteQuality
SIO_000300: 9.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.689e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

GenotypeQuality
all individuals: 2512
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.545595054095827e-4
allele num: 6470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.636e1

DP
type: SiteQuality
SIO_000300: 1.342479e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 38875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13328
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.603e0

DP
type: SiteQuality
SIO_000300: 1.378474e6

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 7.433e0

QD
type: SiteQuality
SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 1714
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 858
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.232897969740075e-5
allele num: 61864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.389659e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.116e0

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42491
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14220
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198178768272226e-4
allele num: 8346
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 1.412e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 1.429017e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.593e1

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5307
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14674
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.124218945263684e-5
allele num: 64016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.021e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.447929e6

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

GenotypeQuality
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 606
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.351716680183834e-4
allele num: 14796
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

FS
type: SiteQuality
SIO_000300: 2.126e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.454574e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

GenotypeQuality
all individuals: 1108
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 9.75e1
variant carriers: 2628

GenotypeQuality
all individuals: 1304
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 6

Other
type: Population
allele count: 18
allele frequency: 2.027027027027027e-2
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 1182
allele frequency: 1.163844033083891e-1
allele num: 10156
num of homozygotes: 76

East Asian
type: Population
allele count: 97
allele frequency: 1.133442393082496e-2
allele num: 8558
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 465
allele frequency: 7.087766362832668e-3
allele num: 65606
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 26
allele frequency: 3.951367781155016e-3
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 884
allele frequency: 5.556253928346951e-2
allele num: 15910
num of homozygotes: 35

Latino
type: Population
allele count: 116
allele frequency: 1.010805158591844e-2
allele num: 11476
num of homozygotes: 2

QD
type: SiteQuality
SIO_000300: 1.529e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.551726e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

FS
type: SiteQuality
SIO_000300: 5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1