16-28877761-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877761
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877761
    reference: chr 16
allele count: 11
allele frequency: 9.184883351981429e-5
allele num: 119762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.346C>G
  hgvsp: ENSP00000378903.4:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.346C>G
  hgvsp: ENSP00000352232.5:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.346C>G
  hgvsp: ENSP00000321221.7:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-891C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2686C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.346C>G
  hgvsp: ENSP00000337163.5:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-934C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2495C>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33325
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro116Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/16-28877768-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877768
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877768
    reference: chr 16
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2693C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2502C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.353C>A
  hgvsp: ENSP00000321221.7:p.Ala118Asp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-884C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.353C>A
  hgvsp: ENSP00000352232.5:p.Ala118Asp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.353C>A
  hgvsp: ENSP00000337163.5:p.Ala118Asp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.353C>A
  hgvsp: ENSP00000378903.4:p.Ala118Asp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-927C>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala118Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

16-28877768-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877768
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877768
    reference: chr 16
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-884C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.353C>G
  hgvsp: ENSP00000321221.7:p.Ala118Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.353C>G
  hgvsp: ENSP00000352232.5:p.Ala118Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.353C>G
  hgvsp: ENSP00000337163.5:p.Ala118Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.353C>G
  hgvsp: ENSP00000378903.4:p.Ala118Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2502C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-927C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2693C>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala118Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-28877768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877768
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877768
    reference: chr 16
allele count: 13
allele frequency: 1.083513918986498e-4
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2693C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.353C>T
  hgvsp: ENSP00000378903.4:p.Ala118Val
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.353C>T
  hgvsp: ENSP00000352232.5:p.Ala118Val
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-927C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.353C>T
  hgvsp: ENSP00000337163.5:p.Ala118Val
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.353C>T
  hgvsp: ENSP00000321221.7:p.Ala118Val
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-884C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2502C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala118Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

16-28877773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877773
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877773
    reference: chr 16
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.358C>T
  hgvsp: ENST00000359285.5:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.358C>T
  hgvsp: ENST00000322610.8:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-879C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2507C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2698C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.358C>T
  hgvsp: ENST00000337120.5:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.358C>T
  hgvsp: ENST00000395532.4:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-922C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu120Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

16-28877782-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877782
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877782
    reference: chr 16
allele count: 2
allele frequency: 1.662095902933599e-5
allele num: 120330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2707T>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.367T>A
  hgvsp: ENSP00000352232.5:p.Ser123Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-870T>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-913T>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.367T>A
  hgvsp: ENSP00000378903.4:p.Ser123Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.367T>A
  hgvsp: ENSP00000321221.7:p.Ser123Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.367T>A
  hgvsp: ENSP00000337163.5:p.Ser123Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2516T>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser123Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

16-28877782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877782
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877782
    reference: chr 16
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2516T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.367T>C
  hgvsp: ENSP00000321221.7:p.Ser123Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-913T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-870T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.367T>C
  hgvsp: ENSP00000337163.5:p.Ser123Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.367T>C
  hgvsp: ENSP00000378903.4:p.Ser123Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2707T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.367T>C
  hgvsp: ENSP00000352232.5:p.Ser123Pro
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser123Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-28877785-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877785
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877785
    reference: chr 16
allele count: 2
allele frequency: 1.661515967168445e-5
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.370C>G
  hgvsp: ENSP00000352232.5:p.Arg124Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-867C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.370C>G
  hgvsp: ENSP00000337163.5:p.Arg124Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.370C>G
  hgvsp: ENSP00000321221.7:p.Arg124Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.370C>G
  hgvsp: ENSP00000378903.4:p.Arg124Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2710C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2519C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-910C>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg124Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

16-28877786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877786
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877786
    reference: chr 16
allele count: 2
allele frequency: 1.661322745169704e-5
allele num: 120386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.371G>A
  hgvsp: ENSP00000337163.5:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2711G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.371G>A
  hgvsp: ENSP00000378903.4:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.371G>A
  hgvsp: ENSP00000321221.7:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2520G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-909G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.371G>A
  hgvsp: ENSP00000352232.5:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-866G>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg124Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

16-28877786-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877786
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877786
    reference: chr 16
allele count: 2
allele frequency: 1.661322745169704e-5
allele num: 120386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2520G>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-866G>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.371G>C
  hgvsp: ENSP00000321221.7:p.Arg124Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.371G>C
  hgvsp: ENSP00000352232.5:p.Arg124Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2711G>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.371G>C
  hgvsp: ENSP00000337163.5:p.Arg124Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.371G>C
  hgvsp: ENSP00000378903.4:p.Arg124Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-909G>C
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg124Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-28877786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877786
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877786
    reference: chr 16
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.371G>T
  hgvsp: ENSP00000352232.5:p.Arg124Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2711G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2520G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.371G>T
  hgvsp: ENSP00000321221.7:p.Arg124Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.371G>T
  hgvsp: ENSP00000378903.4:p.Arg124Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-866G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-909G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.371G>T
  hgvsp: ENSP00000337163.5:p.Arg124Leu
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg124Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-28877787-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877787
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877787
    reference: chr 16
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2521A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.372A>T
  hgvsp: ENST00000322610.8:c.372A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-908A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2712A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.372A>T
  hgvsp: ENST00000337120.5:c.372A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.372A>T
  hgvsp: ENST00000359285.5:c.372A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-865A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.372A>T
  hgvsp: ENST00000395532.4:c.372A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg124Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

16-28877790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877790
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877790
    reference: chr 16
allele count: 11
allele frequency: 9.127115831397279e-5
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.375A>G
  hgvsp: ENST00000322610.8:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.375A>G
  hgvsp: ENST00000359285.5:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2524A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.375A>G
  hgvsp: ENST00000337120.5:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-905A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2715A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.375A>G
  hgvsp: ENST00000395532.4:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-862A>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser125Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-28877791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877791
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877791
    reference: chr 16
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2716T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.376T>C
  hgvsp: ENSP00000321221.7:p.Ser126Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.376T>C
  hgvsp: ENSP00000337163.5:p.Ser126Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.376T>C
  hgvsp: ENSP00000352232.5:p.Ser126Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-861T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.376T>C
  hgvsp: ENSP00000378903.4:p.Ser126Pro
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2525T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-904T>C
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser126Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

16-28877792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877792
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877792
    reference: chr 16
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.377C>T
  hgvsp: ENSP00000352232.5:p.Ser126Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.377C>T
  hgvsp: ENSP00000378903.4:p.Ser126Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2526C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.377C>T
  hgvsp: ENSP00000337163.5:p.Ser126Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-903C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2717C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-860C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.377C>T
  hgvsp: ENSP00000321221.7:p.Ser126Phe
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser126Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

16-28877795-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877795
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877795
    reference: chr 16
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.380A>G
  hgvsp: ENSP00000337163.5:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-857A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-29+2720A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.380A>G
  hgvsp: ENSP00000378903.4:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.380A>G
  hgvsp: ENSP00000352232.5:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-900A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2529A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.380A>G
  hgvsp: ENSP00000321221.7:p.Glu127Gly
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu127Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-28877805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877805
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877805
    reference: chr 16
allele count: 3
allele frequency: 2.483114819229241e-5
allele num: 120816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.390C>T
  hgvsp: ENST00000359285.5:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.390C>T
  hgvsp: ENST00000322610.8:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2539C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2724C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.390C>T
  hgvsp: ENST00000395532.4:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.390C>T
  hgvsp: ENST00000337120.5:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-847C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-890C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala130Ala
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: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

16-28877806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877806
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877806
    reference: chr 16
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.391G>A
  hgvsp: ENSP00000378903.4:p.Gly131Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.391G>A
  hgvsp: ENSP00000337163.5:p.Gly131Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.391G>A
  hgvsp: ENSP00000321221.7:p.Gly131Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-889G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-846G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.391G>A
  hgvsp: ENSP00000352232.5:p.Gly131Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2540G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2723G>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly131Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

16-28877812-CTCCCTTCCTCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877812
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877800
    reference: chr 16
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsp: ENSP00000321221.7:p.Pro134_Val137del
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsp: ENSP00000352232.5:p.Pro134_Val137del
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsp: ENSP00000378903.4:p.Pro134_Val137del
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsp: ENSP00000337163.5:p.Pro134_Val137del
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro134_Val137del
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: CTCCCTTCCTCAG
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

16-28877815-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877815
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877815
    reference: chr 16
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.400C>G
  hgvsp: ENSP00000352232.5:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2549C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.400C>G
  hgvsp: ENSP00000321221.7:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2714C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.400C>G
  hgvsp: ENSP00000337163.5:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.400C>G
  hgvsp: ENSP00000378903.4:p.Pro134Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-837C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-880C>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro134Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

16-28878028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28878028
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28878028
    reference: chr 16
allele count: 6
allele frequency: 5.29829394934831e-5
allele num: 113244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.613G>A
  hgvsp: ENSP00000352232.5:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2501G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.613G>A
  hgvsp: ENSP00000337163.5:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.43+30G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-667G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.613G>A
  hgvsp: ENSP00000378903.4:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.613G>A
  hgvsp: ENSP00000321221.7:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2762G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-624G>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly205Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-28877825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877825
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877825
    reference: chr 16
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.410T>C
  hgvsp: ENSP00000378903.4:p.Val137Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.410T>C
  hgvsp: ENSP00000337163.5:p.Val137Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2704T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-870T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.410T>C
  hgvsp: ENSP00000352232.5:p.Val137Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2559T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.410T>C
  hgvsp: ENSP00000321221.7:p.Val137Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-827T>C
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val137Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

16-28877829-TTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877829
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877826
    reference: chr 16
allele count: 5
allele frequency: 4.124936063491016e-5
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.420_422delCTC
  hgvsp: ENSP00000337163.5:p.Ser141del
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-817_10-815delCTC
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2569_68+2571delCTC
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.420_422delCTC
  hgvsp: ENSP00000321221.7:p.Ser141del
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.420_422delCTC
  hgvsp: ENSP00000378903.4:p.Ser141del
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.420_422delCTC
  hgvsp: ENSP00000352232.5:p.Ser141del
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2694_-28-2692delCTC
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-860_-26-858delCTC
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser141del
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: TTCC
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-28877832-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877832
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877832
    reference: chr 16
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.417C>G
  hgvsp: ENST00000395532.4:c.417C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2697C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.417C>G
  hgvsp: ENST00000322610.8:c.417C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2566C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-820C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.417C>G
  hgvsp: ENST00000359285.5:c.417C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.417C>G
  hgvsp: ENST00000337120.5:c.417C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-863C>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser139Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

16-28877837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877837
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877837
    reference: chr 16
allele count: 9
allele frequency: 7.422068283028204e-5
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2571C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.422C>T
  hgvsp: ENSP00000352232.5:p.Ser141Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.422C>T
  hgvsp: ENSP00000378903.4:p.Ser141Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.422C>T
  hgvsp: ENSP00000337163.5:p.Ser141Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-815C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.422C>T
  hgvsp: ENSP00000321221.7:p.Ser141Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2692C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-858C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47502
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser141Phe
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-28877842-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877842
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877842
    reference: chr 16
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.427A>G
  hgvsp: ENSP00000321221.7:p.Thr143Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.427A>G
  hgvsp: ENSP00000378903.4:p.Thr143Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2687A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.427A>G
  hgvsp: ENSP00000352232.5:p.Thr143Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2576A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-810A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-853A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.427A>G
  hgvsp: ENSP00000337163.5:p.Thr143Ala
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr143Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

16-28877844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877844
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877844
    reference: chr 16
allele count: 3
allele frequency: 2.473043822336532e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.429C>T
  hgvsp: ENST00000322610.8:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.429C>T
  hgvsp: ENST00000359285.5:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2685C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2578C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.429C>T
  hgvsp: ENST00000337120.5:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.429C>T
  hgvsp: ENST00000395532.4:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-851C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-808C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr143Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-28877847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877847
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877847
    reference: chr 16
allele count: 16
allele frequency: 1.318847986283981e-4
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-848C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2682C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.432C>T
  hgvsp: ENST00000359285.5:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2581C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.432C>T
  hgvsp: ENST00000395532.4:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-805C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.432C>T
  hgvsp: ENST00000322610.8:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.432C>T
  hgvsp: ENST00000337120.5:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser144Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-28877855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877855
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877855
    reference: chr 16
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-840C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.440C>G
  hgvsp: ENSP00000321221.7:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.440C>G
  hgvsp: ENSP00000337163.5:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.440C>G
  hgvsp: ENSP00000352232.5:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-797C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2589C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2674C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.440C>G
  hgvsp: ENSP00000378903.4:p.Pro147Arg
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro147Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

16-28877855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877855
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877855
    reference: chr 16
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-797C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.440C>T
  hgvsp: ENSP00000337163.5:p.Pro147Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2674C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.440C>T
  hgvsp: ENSP00000352232.5:p.Pro147Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.440C>T
  hgvsp: ENSP00000321221.7:p.Pro147Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-840C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.440C>T
  hgvsp: ENSP00000378903.4:p.Pro147Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2589C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro147Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

16-28877862-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877862
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877862
    reference: chr 16
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2667C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.447C>G
  hgvsp: ENST00000337120.5:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.447C>G
  hgvsp: ENST00000322610.8:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-833C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-790C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.447C>G
  hgvsp: ENST00000359285.5:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2596C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.447C>G
  hgvsp: ENST00000395532.4:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu149Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-28877864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877864
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877864
    reference: chr 16
allele count: 8
allele frequency: 6.592718342590609e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2665A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2598A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.449A>G
  hgvsp: ENSP00000378903.4:p.Lys150Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.449A>G
  hgvsp: ENSP00000321221.7:p.Lys150Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.449A>G
  hgvsp: ENSP00000337163.5:p.Lys150Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-831A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-788A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.449A>G
  hgvsp: ENSP00000352232.5:p.Lys150Arg
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys150Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-28877869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877869
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877869
    reference: chr 16
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.454C>T
  hgvsp: ENSP00000321221.7:p.Arg152Cys
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2660C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-826C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-783C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2603C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.454C>T
  hgvsp: ENSP00000352232.5:p.Arg152Cys
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.454C>T
  hgvsp: ENSP00000378903.4:p.Arg152Cys
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.454C>T
  hgvsp: ENSP00000337163.5:p.Arg152Cys
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg152Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

16-28877870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877870
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877870
    reference: chr 16
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.455G>A
  hgvsp: ENSP00000321221.7:p.Arg152His
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.455G>A
  hgvsp: ENSP00000337163.5:p.Arg152His
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-782G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.455G>A
  hgvsp: ENSP00000352232.5:p.Arg152His
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.455G>A
  hgvsp: ENSP00000378903.4:p.Arg152His
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2604G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2659G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-825G>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg152His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

16-28877894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877894
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877894
    reference: chr 16
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.479G>A
  hgvsp: ENSP00000352232.5:p.Arg160His
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.479G>A
  hgvsp: ENSP00000337163.5:p.Arg160His
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-801G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2635G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.479G>A
  hgvsp: ENSP00000378903.4:p.Arg160His
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-758G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2628G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.479G>A
  hgvsp: ENSP00000321221.7:p.Arg160His
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg160His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-28877894-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877894
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877894
    reference: chr 16
allele count: 3
allele frequency: 2.472758444470088e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.479G>T
  hgvsp: ENSP00000337163.5:p.Arg160Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-758G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.479G>T
  hgvsp: ENSP00000352232.5:p.Arg160Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.479G>T
  hgvsp: ENSP00000378903.4:p.Arg160Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.479G>T
  hgvsp: ENSP00000321221.7:p.Arg160Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2635G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2628G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-801G>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg160Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

16-28877900-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877900
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877899
    reference: chr 16
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.487delC
  hgvsp: ENSP00000352232.5:p.Arg163GlufsTer32
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2636delC
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.487delC
  hgvsp: ENSP00000321221.7:p.Arg163GlufsTer32
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.487delC
  hgvsp: ENSP00000378903.4:p.Arg163GlufsTer32
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.487delC
  hgvsp: ENSP00000337163.5:p.Arg163GlufsTer32
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2627delC
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-750delC
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-793delC
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg163GlufsTer32
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: TC
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-28877902-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877902
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877902
    reference: chr 16
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2636C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.487C>A
  hgvsp: ENST00000359285.5:c.487C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-793C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.487C>A
  hgvsp: ENST00000337120.5:c.487C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.487C>A
  hgvsp: ENST00000395532.4:c.487C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2627C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-750C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.487C>A
  hgvsp: ENST00000322610.8:c.487C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg163Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

16-28877914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877914
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877914
    reference: chr 16
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.499C>T
  hgvsp: ENSP00000337163.5:p.Arg167Cys
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-781C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2615C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2648C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.499C>T
  hgvsp: ENSP00000378903.4:p.Arg167Cys
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.499C>T
  hgvsp: ENSP00000321221.7:p.Arg167Cys
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.499C>T
  hgvsp: ENSP00000352232.5:p.Arg167Cys
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-738C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47444
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg167Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

16-28877922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877922
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877922
    reference: chr 16
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-773C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.507C>T
  hgvsp: ENST00000395532.4:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-730C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2656C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.507C>T
  hgvsp: ENST00000359285.5:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.507C>T
  hgvsp: ENST00000322610.8:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.507C>T
  hgvsp: ENST00000337120.5:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2607C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile169Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-28877927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877927
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877927
    reference: chr 16
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.512A>G
  hgvsp: ENSP00000337163.5:p.Gln171Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-725A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.512A>G
  hgvsp: ENSP00000378903.4:p.Gln171Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-768A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.512A>G
  hgvsp: ENSP00000321221.7:p.Gln171Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.512A>G
  hgvsp: ENSP00000352232.5:p.Gln171Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2661A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2602A>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln171Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

16-28877929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877929
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877929
    reference: chr 16
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-723T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.514T>C
  hgvsp: ENSP00000321221.7:p.Trp172Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.514T>C
  hgvsp: ENSP00000337163.5:p.Trp172Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.514T>C
  hgvsp: ENSP00000352232.5:p.Trp172Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2663T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2600T>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.514T>C
  hgvsp: ENSP00000378903.4:p.Trp172Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-766T>C
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Trp172Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

16-28877932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877932
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877932
    reference: chr 16
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2597C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2666C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.517C>T
  hgvsp: ENSP00000337163.5:p.Arg173Trp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.517C>T
  hgvsp: ENSP00000378903.4:p.Arg173Trp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.517C>T
  hgvsp: ENSP00000321221.7:p.Arg173Trp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-720C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.517C>T
  hgvsp: ENSP00000352232.5:p.Arg173Trp
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-763C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg173Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-28877934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877934
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877934
    reference: chr 16
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.519G>A
  hgvsp: ENST00000337120.5:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-718G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2595G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2668G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.519G>A
  hgvsp: ENST00000395532.4:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.519G>A
  hgvsp: ENST00000322610.8:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-761G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.519G>A
  hgvsp: ENST00000359285.5:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg173Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

16-28877938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877938
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877938
    reference: chr 16
allele count: 58
allele frequency: 4.942058623040219e-4
allele num: 117360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.523A>G
  hgvsp: ENSP00000352232.5:p.Thr175Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.523A>G
  hgvsp: ENSP00000321221.7:p.Thr175Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.523A>G
  hgvsp: ENSP00000337163.5:p.Thr175Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.523A>G
  hgvsp: ENSP00000378903.4:p.Thr175Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2672A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2591A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-714A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-757A>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19506
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Thr175Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-28877938-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877938
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877938
    reference: chr 16
allele count: 1
allele frequency: 8.520790729379687e-6
allele num: 117360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.523A>T
  hgvsp: ENSP00000352232.5:p.Thr175Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2672A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-757A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.523A>T
  hgvsp: ENSP00000321221.7:p.Thr175Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-714A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.523A>T
  hgvsp: ENSP00000378903.4:p.Thr175Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.523A>T
  hgvsp: ENSP00000337163.5:p.Thr175Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2591A>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr175Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-28877939-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877939
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877939
    reference: chr 16
allele count: 32
allele frequency: 2.650674265266227e-4
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-713C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-756C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.524C>A
  hgvsp: ENSP00000321221.7:p.Thr175Asn
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.524C>A
  hgvsp: ENSP00000337163.5:p.Thr175Asn
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.524C>A
  hgvsp: ENSP00000378903.4:p.Thr175Asn
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.524C>A
  hgvsp: ENSP00000352232.5:p.Thr175Asn
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2673C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2590C>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45923
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr175Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

16-28877940-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877940
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877940
    reference: chr 16
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-712C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.525C>G
  hgvsp: ENST00000322610.8:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.525C>G
  hgvsp: ENST00000359285.5:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.525C>G
  hgvsp: ENST00000337120.5:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-755C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.525C>G
  hgvsp: ENST00000395532.4:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2674C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2589C>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr175Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-28877940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877940
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877940
    reference: chr 16
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.525C>T
  hgvsp: ENST00000395532.4:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-712C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.525C>T
  hgvsp: ENST00000337120.5:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.525C>T
  hgvsp: ENST00000359285.5:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2674C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-755C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2589C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.525C>T
  hgvsp: ENST00000322610.8:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr175Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

16-28877941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877941
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877941
    reference: chr 16
allele count: 8
allele frequency: 6.627015026756573e-5
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.526G>A
  hgvsp: ENSP00000378903.4:p.Val176Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2588G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.526G>A
  hgvsp: ENSP00000321221.7:p.Val176Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-711G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.526G>A
  hgvsp: ENSP00000352232.5:p.Val176Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.526G>A
  hgvsp: ENSP00000337163.5:p.Val176Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2675G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-754G>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val176Ile
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-28877946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877946
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877946
    reference: chr 16
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.531C>T
  hgvsp: ENST00000337120.5:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-706C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2680C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.531C>T
  hgvsp: ENST00000395532.4:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.531C>T
  hgvsp: ENST00000322610.8:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-749C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2583C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.531C>T
  hgvsp: ENST00000359285.5:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp177Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

16-28877950-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877950
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877950
    reference: chr 16
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-745C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.535C>G
  hgvsp: ENSP00000321221.7:p.Pro179Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2579C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2684C>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.535C>G
  hgvsp: ENSP00000337163.5:p.Pro179Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.535C>G
  hgvsp: ENSP00000352232.5:p.Pro179Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.535C>G
  hgvsp: ENSP00000378903.4:p.Pro179Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-702C>G
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro179Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-28877954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877954
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877954
    reference: chr 16
allele count: 3
allele frequency: 2.501292334372759e-5
allele num: 119938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.539C>T
  hgvsp: ENSP00000352232.5:p.Ser180Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-698C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.539C>T
  hgvsp: ENSP00000337163.5:p.Ser180Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.539C>T
  hgvsp: ENSP00000378903.4:p.Ser180Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.539C>T
  hgvsp: ENSP00000321221.7:p.Ser180Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2575C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2688C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-741C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser180Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

16-28877959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877959
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877959
    reference: chr 16
allele count: 3
allele frequency: 2.513152162986295e-5
allele num: 119372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2693G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.544G>A
  hgvsp: ENSP00000337163.5:p.Ala182Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-693G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-736G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2570G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.544G>A
  hgvsp: ENSP00000321221.7:p.Ala182Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.544G>A
  hgvsp: ENSP00000378903.4:p.Ala182Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.4G>A
  hgvsp: ENSP00000455534.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.544G>A
  hgvsp: ENSP00000352232.5:p.Ala182Thr
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala182Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

16-28877959-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877959
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877959
    reference: chr 16
allele count: 1
allele frequency: 8.377173876620983e-6
allele num: 119372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.4G>T
  hgvsp: ENSP00000455534.1:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2693G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2570G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-736G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.544G>T
  hgvsp: ENSP00000352232.5:p.Ala182Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.544G>T
  hgvsp: ENSP00000378903.4:p.Ala182Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-693G>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.544G>T
  hgvsp: ENSP00000337163.5:p.Ala182Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.544G>T
  hgvsp: ENSP00000321221.7:p.Ala182Ser
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20843
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala182Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

16-28877962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877962
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877962
    reference: chr 16
allele count: 1
allele frequency: 8.379420144126027e-6
allele num: 119340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-733G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-690G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2696G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.547G>A
  hgvsp: ENSP00000337163.5:p.Gly183Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.547G>A
  hgvsp: ENSP00000378903.4:p.Gly183Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.547G>A
  hgvsp: ENSP00000321221.7:p.Gly183Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.7G>A
  hgvsp: ENSP00000455534.1:p.Gly3Arg
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2567G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.547G>A
  hgvsp: ENSP00000352232.5:p.Gly183Arg
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly183Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

16-28877963-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877963
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877963
    reference: chr 16
allele count: 1
allele frequency: 8.389261744966442e-6
allele num: 119200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.548G>C
  hgvsp: ENSP00000337163.5:p.Gly183Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2697G>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.548G>C
  hgvsp: ENSP00000352232.5:p.Gly183Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2566G>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.548G>C
  hgvsp: ENSP00000321221.7:p.Gly183Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-689G>C
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.8G>C
  hgvsp: ENSP00000455534.1:p.Gly3Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.548G>C
  hgvsp: ENSP00000378903.4:p.Gly183Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-732G>C
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly183Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-28877965-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877965
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877965
    reference: chr 16
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-730C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2564C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.10C>A
  hgvsp: ENSP00000455534.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-687C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.550C>A
  hgvsp: ENSP00000352232.5:p.Pro184Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.550C>A
  hgvsp: ENSP00000321221.7:p.Pro184Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.550C>A
  hgvsp: ENSP00000378903.4:p.Pro184Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.550C>A
  hgvsp: ENSP00000337163.5:p.Pro184Thr
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2699C>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro184Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

16-28877967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877967
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877967
    reference: chr 16
allele count: 1
allele frequency: 8.410711882653748e-6
allele num: 118896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-728C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2701C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.552C>T
  hgvsp: ENST00000337120.5:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.552C>T
  hgvsp: ENST00000395532.4:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2562C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-685C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.552C>T
  hgvsp: ENST00000359285.5:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.552C>T
  hgvsp: ENST00000322610.8:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.12C>T
  hgvsp: ENST00000566176.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro184Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-28877973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877973
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877973
    reference: chr 16
allele count: 2
allele frequency: 1.693107359937694e-5
allele num: 118126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.18G>A
  hgvsp: ENST00000566176.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.558G>A
  hgvsp: ENST00000337120.5:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.558G>A
  hgvsp: ENST00000359285.5:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.558G>A
  hgvsp: ENST00000395532.4:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-722G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-679G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.558G>A
  hgvsp: ENST00000322610.8:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2707G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2556G>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu186Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-28877974-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877974
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877974
    reference: chr 16
allele count: 2
allele frequency: 1.693537461048639e-5
allele num: 118096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.559A>T
  hgvsp: ENSP00000378903.4:p.Thr187Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.559A>T
  hgvsp: ENSP00000321221.7:p.Thr187Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2708A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-678A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.559A>T
  hgvsp: ENSP00000352232.5:p.Thr187Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.19A>T
  hgvsp: ENSP00000455534.1:p.Thr7Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.559A>T
  hgvsp: ENSP00000337163.5:p.Thr187Ser
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2555A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-721A>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr187Ser
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: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

16-28877974-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877974
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877974
    reference: chr 16
allele count: 3
allele frequency: 2.540306191572958e-5
allele num: 118096
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.559A>G
  hgvsp: ENSP00000321221.7:p.Thr187Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-678A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.559A>G
  hgvsp: ENSP00000378903.4:p.Thr187Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2708A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.19A>G
  hgvsp: ENSP00000455534.1:p.Thr7Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2555A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.559A>G
  hgvsp: ENSP00000352232.5:p.Thr187Ala
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-721A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.559A>G
  hgvsp: ENSP00000337163.5:p.Thr187Ala
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr187Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

16-28877978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877978
    reference: chr 16
allele count: 2
allele frequency: 1.698773485543438e-5
allele num: 117732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-717C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.563C>T
  hgvsp: ENSP00000352232.5:p.Ser188Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-674C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.563C>T
  hgvsp: ENSP00000321221.7:p.Ser188Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.23C>T
  hgvsp: ENSP00000455534.1:p.Ser8Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2551C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.563C>T
  hgvsp: ENSP00000378903.4:p.Ser188Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.563C>T
  hgvsp: ENSP00000337163.5:p.Ser188Leu
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2712C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20116
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser188Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

16-28877979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877979
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877979
    reference: chr 16
allele count: 2
allele frequency: 1.700159815022612e-5
allele num: 117636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.564G>A
  hgvsp: ENST00000359285.5:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.564G>A
  hgvsp: ENST00000395532.4:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.24G>A
  hgvsp: ENST00000566176.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.564G>A
  hgvsp: ENST00000322610.8:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-673G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.564G>A
  hgvsp: ENST00000337120.5:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-716G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2713G>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2550G>A
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser188Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-28877985-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28877985
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28877985
    reference: chr 16
allele count: 2
allele frequency: 1.712152861007431e-5
allele num: 116812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2719C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.570C>A
  hgvsp: ENST00000322610.8:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-710C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-667C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.570C>A
  hgvsp: ENST00000395532.4:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.570C>A
  hgvsp: ENST00000337120.5:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.30C>A
  hgvsp: ENST00000566176.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2544C>A
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.570C>A
  hgvsp: ENST00000359285.5:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly190Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-28878007-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28878007
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28878007
    reference: chr 16
allele count: 1
allele frequency: 8.668215387815956e-6
allele num: 115364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-645A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.592A>G
  hgvsp: ENSP00000337163.5:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.592A>G
  hgvsp: ENSP00000352232.5:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2741A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-688A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2522A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.592A>G
  hgvsp: ENSP00000378903.4:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.43+9A>G
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.592A>G
  hgvsp: ENSP00000321221.7:p.Ser198Gly
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser198Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-28878011-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28878011
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28878011
    reference: chr 16
allele count: 1
allele frequency: 8.700342793506064e-6
allele num: 114938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.596A>T
  hgvsp: ENSP00000378903.4:p.Asn199Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.596A>T
  hgvsp: ENSP00000321221.7:p.Asn199Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2518A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.596A>T
  hgvsp: ENSP00000337163.5:p.Asn199Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.596A>T
  hgvsp: ENSP00000352232.5:p.Asn199Ile
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-684A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-641A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.43+13A>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2745A>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn199Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

16-28878020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28878020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28878020
    reference: chr 16
allele count: 1
allele frequency: 8.766393155200224e-6
allele num: 114072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.605C>T
  hgvsp: ENSP00000378903.4:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.43+22C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2509C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-632C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2754C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.605C>T
  hgvsp: ENSP00000337163.5:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.605C>T
  hgvsp: ENSP00000352232.5:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.605C>T
  hgvsp: ENSP00000321221.7:p.Ser202Phe
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-675C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser202Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

16-28878027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28878027
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28878027
    reference: chr 16
allele count: 5
allele frequency: 4.416805059891877e-5
allele num: 113204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-668C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.612C>T
  hgvsp: ENST00000395532.4:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.612C>T
  hgvsp: ENST00000337120.5:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2761C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.612C>T
  hgvsp: ENST00000359285.5:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-625C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.612C>T
  hgvsp: ENST00000322610.8:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.43+29C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2502C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28923
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly204Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-28878032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28878032
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28878032
    reference: chr 16
allele count: 2
allele frequency: 1.770789063606743e-5
allele num: 112944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-620C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.617C>T
  hgvsp: ENSP00000321221.7:p.Ala206Val
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2766C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-663C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000352232
  ensembl transcript: ENST00000359285
  gene symbol: SH2B1
  hgvsc: ENST00000359285.5:c.617C>T
  hgvsp: ENSP00000352232.5:p.Ala206Val
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455534
  ensembl transcript: ENST00000566176
  gene symbol: SH2B1
  hgvsc: ENST00000566176.1:c.43+34C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2497C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000337163
  ensembl transcript: ENST00000337120
  gene symbol: SH2B1
  hgvsc: ENST00000337120.5:c.617C>T
  hgvsp: ENSP00000337163.5:p.Ala206Val
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.617C>T
  hgvsp: ENSP00000378903.4:p.Ala206Val
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala206Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

16-28878039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28878039
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28878039
    reference: chr 16
allele count: 4
allele frequency: 3.553660270078181e-5
allele num: 112560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000440354
  ensembl transcript: ENST00000545570
  gene symbol: SH2B1
  hgvsc: ENST00000545570.1:c.10-613C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000455236
  ensembl transcript: ENST00000567536
  gene symbol: SH2B1
  hgvsc: ENST00000567536.1:c.-28-2490C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000321221
  ensembl transcript: ENST00000322610
  gene symbol: SH2B1
  hgvsc: ENST00000322610.8:c.624C>T
  hgvsp: ENST00000322610.8:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000378903
  ensembl transcript: ENST00000395532
  gene symbol: SH2B1
  hgvsc: ENST00000395532.4:c.624C>T
  hgvsp: ENST00000395532.4:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl transcript: ENST00000563674
  gene symbol: SH2B1
  hgvsc: ENST00000563674.1:n.68+2773C>T
  variant of: http://identifiers.org/hgnc/30417
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178188
  ensembl protein: ENSP00000438784
  ensembl transcript: ENST00000538342
  gene symbol: SH2B1
  hgvsc: ENST00000538342.1:c.-26-656C>T
  variant of: http://identifiers.org/hgnc/30417
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Thr208Thr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.519941634241245e-4
allele num: 65792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.537988311288834e-4
allele num: 6502
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.466104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 121
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1591
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.469991e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.304e0

FS
type: SiteQuality
SIO_000300: 2.499e0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7511
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.469991e6

FS
type: SiteQuality
SIO_000300: 2.499e0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.304e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 266
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.75e1
variant carriers: 13

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.971608832807571e-4
allele num: 65936
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 2.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.304e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.305e1

DP
type: SiteQuality
SIO_000300: 1.469991e6

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

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 824
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7518
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.268e0

VQSLOD
type: SiteQuality
SIO_000300: -3.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.471902e6

QD
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

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

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

DP
type: SiteQuality
SIO_000300: 1.476734e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.432e1

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

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

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7606
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.022e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.476734e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.478631e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 2.231e0

QD
type: SiteQuality
SIO_000300: 1.517e1

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.479585e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 5.055e0

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.377e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.21580547112462e-4
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

FS
type: SiteQuality
SIO_000300: 5.055e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.479585e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.479585e6

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 5.055e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
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SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 1.479784e6

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 8.103e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.782821365681863e-4
allele num: 10222
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.209e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

FS
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 1.481883e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.083e0

DP
type: SiteQuality
SIO_000300: 1.481722e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.78e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
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MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.482464e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.417e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.881e0

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

African
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allele count: 1
allele frequency: 9.761811792268645e-5
allele num: 10244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.948e0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 1.484162e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.625e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.488917e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47093
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.489693e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.953e0

MQ
type: SiteQuality
SIO_000300: 5.225e1

VQSLOD
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 4.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.491567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
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: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.492369e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
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variant carriers: 0

GenotypeQuality
all individuals: 1081
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 313
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variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.754101919915635e-5
allele num: 64482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.409111e6

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 1679
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variant carriers: 0

GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 47455
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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: 8644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: -2.657e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.494571e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 1.0027e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 140
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variant carriers: 5

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 1675
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 47499
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variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 10362
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.495261e6

QD
type: SiteQuality
SIO_000300: 1.67e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.0906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.724e1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 7812
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 47518
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.189e0

DP
type: SiteQuality
SIO_000300: 1.495429e6

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 1.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.598e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
all individuals: 145
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 7808
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GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 710
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 1677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.496352e6

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.838e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

GenotypeQuality
all individuals: 2203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7815
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 165
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 4.75e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e0

DP
type: SiteQuality
SIO_000300: 1.49664e6

QD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.965e0

GenotypeQuality
all individuals: 139
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 707
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variant carriers: 0

GenotypeQuality
all individuals: 7825
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

DP
type: SiteQuality
SIO_000300: 1.496932e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 709
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GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 16
allele frequency: 1.382886776145203e-3
allele num: 11570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 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: 66676
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

DP
type: SiteQuality
SIO_000300: 1.497984e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.563e0

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 710
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 6
bin: 4.25e1
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: 10396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.498116e6

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 7841
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.157e0

DP
type: SiteQuality
SIO_000300: 1.498116e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.178e1

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2204
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 140
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variant carriers: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.498227e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

FS
type: SiteQuality
SIO_000300: 6.683e0

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.939e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997660608241857e-5
allele num: 66684
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 8.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.167e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.498283e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.09e1

DP
type: SiteQuality
SIO_000300: 1.498245e6

FS
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.186e-1

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 7832
bin: 6.75e1
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GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.497921e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.13e-1

MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: 6.95e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

InbreedingCoeff
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ClippingRankSum
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SIO_000300: -3.28e-1

MQRankSum
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VQSLOD
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FS
type: SiteQuality
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.985e1

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 1.0396e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.743e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.497469e6

VQSLOD
type: SiteQuality
SIO_000300: -1.325e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 1.742e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

QD
type: SiteQuality
SIO_000300: 2.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

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

DP
type: SiteQuality
SIO_000300: 1.496965e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.994e0

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

East Asian
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allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

Other
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South Asian
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allele frequency: 0.0e0
allele num: 16458
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

Other
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African
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

Latino
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ClippingRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66326
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East Asian
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African
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Latino
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Other
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European (Finnish)
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QD
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.533e0

QD
type: SiteQuality
SIO_000300: 1.334e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.311e0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.489893e6

GenotypeQuality
all individuals: 155
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 1819
bin: 7.25e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 8

GenotypeQuality
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bin: 4.25e1
variant carriers: 6

GenotypeQuality
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bin: 6.25e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 233
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6819
bin: 6.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1310
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 39
allele frequency: 7.587548638132296e-3
allele num: 5140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.301460660365779e-4
allele num: 65176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.241773252204148e-4
allele num: 16106
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
SIO_000300: 2.50291e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.375e0

VQSLOD
type: SiteQuality
SIO_000300: -2.835e2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 1.613434e6

GenotypeQuality
all individuals: 1310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.208866261020738e-5
allele num: 16106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.50291e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.375e0

VQSLOD
type: SiteQuality
SIO_000300: -2.835e2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 1.613434e6

MQ
type: SiteQuality
SIO_000300: 5.9e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
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GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 231
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GenotypeQuality
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GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 32

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.065407895925558e-4
allele num: 66414
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: 16274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.095702529716549e-4
allele num: 6562
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.505928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

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

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 45895
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 2219
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 287
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GenotypeQuality
all individuals: 1664
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variant carriers: 0

GenotypeQuality
all individuals: 709
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variant carriers: 0

GenotypeQuality
all individuals: 7687
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 1.50403e6

FS
type: SiteQuality
SIO_000300: 9.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.628e0

GenotypeQuality
all individuals: 2219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012683397101799e-5
allele num: 66386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 896
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.628e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

FS
type: SiteQuality
SIO_000300: 9.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 1.50403e6

GenotypeQuality
all individuals: 7672
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 336
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.847063169560399e-4
allele num: 16242
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.518888955835392e-5
allele num: 66388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.503984e6

FS
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.295e0

QD
type: SiteQuality
SIO_000300: 1.186e1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

GenotypeQuality
all individuals: 271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1660
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 195
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GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 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: 8640
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: 898
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 9.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.96e-1

DP
type: SiteQuality
SIO_000300: 1.499519e6

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
all individuals: 301
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 310
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 224
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GenotypeQuality
all individuals: 151
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GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.494508e6

VQSLOD
type: SiteQuality
SIO_000300: -1.725e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 2.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.508e1

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 696
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 2156
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GenotypeQuality
all individuals: 345
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variant carriers: 3

GenotypeQuality
all individuals: 318
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GenotypeQuality
all individuals: 45167
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.931247585940518e-4
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.350819255683983e-5
allele num: 15746
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

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: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.489174e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.399e0

QD
type: SiteQuality
SIO_000300: 1.617e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 1.188e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 6.450780544445878e-5
allele num: 15502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030211205721039e-5
allele num: 66002
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.48248e6

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.450780544445878e-5
allele num: 15502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.48248e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1603
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15324
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.757e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.433e0

VQSLOD
type: SiteQuality
SIO_000300: -3.551e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.473736e6

FS
type: SiteQuality
SIO_000300: 3.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

GenotypeQuality
all individuals: 1968
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 263
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 229
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516392199678525e-5
allele num: 65946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15222
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: -2.281e0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

DP
type: SiteQuality
SIO_000300: 1.471307e6

QD
type: SiteQuality
SIO_000300: 1.316e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

GenotypeQuality
all individuals: 1593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 669
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variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
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: 886
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15066
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.467536e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 1.898e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.014e0

QD
type: SiteQuality
SIO_000300: 1.142e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 93
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 426
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.368e0

FS
type: SiteQuality
SIO_000300: 1.1825e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.465697e6

QD
type: SiteQuality
SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
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variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043676761527926e-5
allele num: 65710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14454
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

FS
type: SiteQuality
SIO_000300: 1.836e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.451738e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.956e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
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GenotypeQuality
all individuals: 43566
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 205
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variant carriers: 2

GenotypeQuality
all individuals: 250
bin: 8.75e1
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GenotypeQuality
all individuals: 2797
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
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: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

DP
type: SiteQuality
SIO_000300: 1.45159e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.659e0

QD
type: SiteQuality
SIO_000300: 9.58e0

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

European (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: 11544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.07957853874948e-4
allele num: 14426
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 2.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.45159e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523739867129884e-5
allele num: 65628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.061149555147578e-5
allele num: 14162
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 3.639e0

DP
type: SiteQuality
SIO_000300: 1.446718e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

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

East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14082
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52401853206535e-5
allele num: 65616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
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: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.446378e6

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: -2.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.08e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.059975520195839e-5
allele num: 65360
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 4.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

DP
type: SiteQuality
SIO_000300: 1.440352e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64986
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12530
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.438e0

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 4.189e0

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.138e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 1.423217e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -2.311e0

DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.846e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

Other
type: Population
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.755064056829109e-5
allele num: 64474
num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.858e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.327746741154562e-4
allele num: 8592
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: 0
allele frequency: 0.0e0
allele num: 10806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64416
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 5.399e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.223e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.406892e6