1-21051125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21051125
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21051125
    reference: chr 1
allele count: 1
allele frequency: 2.290321103018643e-5
allele num: 43662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.78C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.142C>T
  hgvsp: ENSP00000364171.1:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.394C>T
  hgvsp: ENST00000518294.1:c.394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.373C>T
  hgvsp: ENSP00000408509.2:p.Gln125Ter
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.394C>T
  hgvsp: ENSP00000406026.2:p.Gln132Ter
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln132Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-21051126-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21051126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21051126
    reference: chr 1
allele count: 2
allele frequency: 4.57205559619605e-5
allele num: 43744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.393C>G
  hgvsp: ENST00000444387.2:c.393C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.372C>G
  hgvsp: ENST00000447746.2:c.372C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.141C>G
  hgvsp: ENST00000375031.1:c.141C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.77C>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.393C>G
  hgvsp: ENST00000518294.1:c.393C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30388
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7633
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 0
hgvs: c.393C>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

1-21051131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21051131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21051131
    reference: chr 1
allele count: 27
allele frequency: 6.6630472336015e-4
allele num: 40522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-3C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.139-3C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.391-3C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.391-3C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.370-3C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15823
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2243
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.5e0
  variant carriers: 0
hgvs: c.391-3C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-21051137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21051137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21051137
    reference: chr 1
allele count: 1
allele frequency: 2.611375150154071e-5
allele num: 38294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.139-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.391-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.370-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.391-9C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10822
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-21051158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21051158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21051158
    reference: chr 1
allele count: 5
allele frequency: 1.877017794128688e-4
allele num: 26638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.139-30G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.391-30G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.370-30G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-30G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.391-30G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28955
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-21051159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21051159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21051159
    reference: chr 1
allele count: 1
allele frequency: 3.775294472968892e-5
allele num: 26488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.391-31A>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-31A>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.391-31A>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.370-31A>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.139-31A>G
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
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: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 25522
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-21051166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21051166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21051166
    reference: chr 1
allele count: 1
allele frequency: 4.14181577203446e-5
allele num: 24144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.139-38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.391-38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.391-38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.370-38C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29467
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-21052362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052362
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052362
    reference: chr 1
allele count: 38
allele frequency: 3.352566477864239e-4
allele num: 113346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+51C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+51C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+51C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1234C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+51C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
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  variant carriers: 8
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-21052363-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052363
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052363
    reference: chr 1
allele count: 1
allele frequency: 8.808244516867789e-6
allele num: 113530
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+50G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+50G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+50G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1235G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+50G>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 19353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15927
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2837
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 220
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genotype depth: GenotypeDepth
  all individuals: 783
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genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 277
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-21052374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052374
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052374
    reference: chr 1
allele count: 18
allele frequency: 1.58202816010125e-4
allele num: 113778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+39G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+39G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+39G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1246G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+39G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
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genotype depth: GenotypeDepth
  all individuals: 280
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 221
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33837
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5966
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genotype quality: GenotypeQuality
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-21052375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052375
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052375
    reference: chr 1
allele count: 2
allele frequency: 1.754632229084784e-5
allele num: 113984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+38C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1247C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19352
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 240
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-21052376-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052376
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052376
    reference: chr 1
allele count: 5
allele frequency: 4.383119729298525e-5
allele num: 114074
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+37C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+37C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1248C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+37C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+37C>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6051
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-21052379-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052379
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052379
    reference: chr 1
allele count: 8
allele frequency: 7.006480994920302e-5
allele num: 114180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+34A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+34A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1251A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+34A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+34A>C
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-21052381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052381
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052381
    reference: chr 1
allele count: 2
allele frequency: 1.751252145283878e-5
allele num: 114204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1253G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+32G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+32G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+32G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+32G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-21052386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052386
    reference: chr 1
allele count: 1
allele frequency: 8.750437521876094e-6
allele num: 114280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+27G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+27G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+27G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1258G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+27G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-21052387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052387
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052387
    reference: chr 1
allele count: 2
allele frequency: 1.743405568437386e-5
allele num: 114718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1259C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+26C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+26C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+26C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+26C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21271
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-21052390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052390
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052390
    reference: chr 1
allele count: 29
allele frequency: 2.522397147081847e-4
allele num: 114970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+23G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+23G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+23G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1262G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+23G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22519
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 9.75e1
  variant carriers: 28
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-21052399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052399
    reference: chr 1
allele count: 1
allele frequency: 8.620243780494112e-6
allele num: 116006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1271G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.390+14G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.138+14G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.390+14G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.369+14G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-21052419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052419
    reference: chr 1
allele count: 3
allele frequency: 2.55449591280654e-5
allele num: 117440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.363A>G
  hgvsp: ENST00000447746.2:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.384A>G
  hgvsp: ENST00000444387.2:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.384A>G
  hgvsp: ENST00000518294.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.132A>G
  hgvsp: ENST00000375031.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1291A>G
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23486
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro128Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-21052420-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052420
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052420
    reference: chr 1
allele count: 2
allele frequency: 1.702156632453318e-5
allele num: 117498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.131C>A
  hgvsp: ENSP00000364171.1:p.Pro44Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1292C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.383C>A
  hgvsp: ENSP00000406026.2:p.Pro128Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.362C>A
  hgvsp: ENSP00000408509.2:p.Pro121Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.383C>A
  hgvsp: ENSP00000428153.1:p.Pro128Gln
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25030
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro128Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

1-21052423-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052423
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052423
    reference: chr 1
allele count: 1
allele frequency: 8.506149946411256e-6
allele num: 117562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.380A>G
  hgvsp: ENSP00000428153.1:p.Gln127Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.380A>G
  hgvsp: ENSP00000406026.2:p.Gln127Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.359A>G
  hgvsp: ENSP00000408509.2:p.Gln120Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.128A>G
  hgvsp: ENSP00000364171.1:p.Gln43Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1295A>G
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln127Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-21052451-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052451
    reference: chr 1
allele count: 1
allele frequency: 8.579566903462713e-6
allele num: 116556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.352C>A
  hgvsp: ENSP00000406026.2:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.100C>A
  hgvsp: ENSP00000364171.1:p.Leu34Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.352C>A
  hgvsp: ENSP00000428153.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.331C>A
  hgvsp: ENSP00000408509.2:p.Leu111Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.352C>A
  hgvsp: ENSP00000428656.1:p.Leu118Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1323C>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu118Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

1-21052464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052464
    reference: chr 1
allele count: 1
allele frequency: 8.753807906439301e-6
allele num: 114236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1336C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.339C>T
  hgvsp: ENST00000444387.2:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.87C>T
  hgvsp: ENST00000375031.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.318C>T
  hgvsp: ENST00000447746.2:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.339C>T
  hgvsp: ENST00000517430.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.339C>T
  hgvsp: ENST00000518294.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser113Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-21052464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052464
    reference: chr 1
allele count: 1
allele frequency: 8.753807906439301e-6
allele num: 114236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1336C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.339C>A
  hgvsp: ENSP00000406026.2:p.Ser113Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.339C>A
  hgvsp: ENSP00000428656.1:p.Ser113Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.318C>A
  hgvsp: ENSP00000408509.2:p.Ser106Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.87C>A
  hgvsp: ENSP00000364171.1:p.Ser29Arg
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.339C>A
  hgvsp: ENSP00000428153.1:p.Ser113Arg
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser113Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-21052468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052468
    reference: chr 1
allele count: 2
allele frequency: 1.773489873372823e-5
allele num: 112772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1340G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.83G>A
  hgvsp: ENSP00000364171.1:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.314G>A
  hgvsp: ENSP00000408509.2:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.335G>A
  hgvsp: ENSP00000428656.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.335G>A
  hgvsp: ENSP00000428153.1:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.335G>A
  hgvsp: ENSP00000406026.2:p.Arg112Gln
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21112
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg112Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

1-21052469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052469
    reference: chr 1
allele count: 6
allele frequency: 5.31641531836467e-5
allele num: 112858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.334C>T
  hgvsp: ENSP00000428153.1:p.Arg112Trp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.313C>T
  hgvsp: ENSP00000408509.2:p.Arg105Trp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.82C>T
  hgvsp: ENSP00000364171.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1341C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.334C>T
  hgvsp: ENSP00000406026.2:p.Arg112Trp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.334C>T
  hgvsp: ENSP00000428656.1:p.Arg112Trp
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21144
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22164
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg112Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-21052469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052469
    reference: chr 1
allele count: 3
allele frequency: 2.658207659182335e-5
allele num: 112858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.82C>G
  hgvsp: ENSP00000364171.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.334C>G
  hgvsp: ENSP00000428153.1:p.Arg112Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1341C>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.313C>G
  hgvsp: ENSP00000408509.2:p.Arg105Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.334C>G
  hgvsp: ENSP00000428656.1:p.Arg112Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.334C>G
  hgvsp: ENSP00000406026.2:p.Arg112Gly
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21144
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg112Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-21052471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052471
    reference: chr 1
allele count: 1
allele frequency: 8.887466894185819e-6
allele num: 112518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.332C>T
  hgvsp: ENSP00000406026.2:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.80C>T
  hgvsp: ENSP00000364171.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.311C>T
  hgvsp: ENSP00000408509.2:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.332C>T
  hgvsp: ENSP00000428656.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.332C>T
  hgvsp: ENSP00000428153.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1343C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro111Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

1-21052472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052472
    reference: chr 1
allele count: 2
allele frequency: 1.780595074874023e-5
allele num: 112322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1344C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.310C>T
  hgvsp: ENSP00000408509.2:p.Pro104Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.331C>T
  hgvsp: ENSP00000428656.1:p.Pro111Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.331C>T
  hgvsp: ENSP00000428153.1:p.Pro111Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.331C>T
  hgvsp: ENSP00000406026.2:p.Pro111Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.79C>T
  hgvsp: ENSP00000364171.1:p.Pro27Ser
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro111Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-21052477-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052477
    reference: chr 1
allele count: 18
allele frequency: 1.658130365894101e-4
allele num: 108556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.74G>C
  hgvsp: ENSP00000364171.1:p.Arg25Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.326G>C
  hgvsp: ENSP00000428656.1:p.Arg109Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.326G>C
  hgvsp: ENSP00000406026.2:p.Arg109Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.326G>C
  hgvsp: ENSP00000428153.1:p.Arg109Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1349G>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.305G>C
  hgvsp: ENSP00000408509.2:p.Arg102Pro
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21285
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 2
hgvs: p.Arg109Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-21052477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052477
    reference: chr 1
allele count: 3
allele frequency: 2.763550609823501e-5
allele num: 108556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.326G>A
  hgvsp: ENSP00000428153.1:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.326G>A
  hgvsp: ENSP00000428656.1:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.305G>A
  hgvsp: ENSP00000408509.2:p.Arg102Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.74G>A
  hgvsp: ENSP00000364171.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1349G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.326G>A
  hgvsp: ENSP00000406026.2:p.Arg109Gln
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg109Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/1-21052481-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052481
    reference: chr 1
allele count: 1
allele frequency: 9.006737039305401e-6
allele num: 111028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.322G>T
  hgvsp: ENSP00000406026.2:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1353G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.70G>T
  hgvsp: ENSP00000364171.1:p.Ala24Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.322G>T
  hgvsp: ENSP00000428656.1:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.301G>T
  hgvsp: ENSP00000408509.2:p.Ala101Ser
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.322G>T
  hgvsp: ENSP00000428153.1:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38817
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala108Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-21052489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052489
    reference: chr 1
allele count: 3
allele frequency: 2.793348107041099e-5
allele num: 107398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.314C>T
  hgvsp: ENSP00000428656.1:p.Ala105Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.314C>T
  hgvsp: ENSP00000428153.1:p.Ala105Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.62C>T
  hgvsp: ENSP00000364171.1:p.Ala21Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.293C>T
  hgvsp: ENSP00000408509.2:p.Ala98Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.314C>T
  hgvsp: ENSP00000406026.2:p.Ala105Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1361C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20610
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala105Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-21052495-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052495
    reference: chr 1
allele count: 1
allele frequency: 9.69067369563532e-6
allele num: 103192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.308A>C
  hgvsp: ENSP00000406026.2:p.Gln103Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.308A>C
  hgvsp: ENSP00000428656.1:p.Gln103Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.56A>C
  hgvsp: ENSP00000364171.1:p.Gln19Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1367A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.287A>C
  hgvsp: ENSP00000408509.2:p.Gln96Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.308A>C
  hgvsp: ENSP00000428153.1:p.Gln103Pro
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16779
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31887
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln103Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

1-21052498-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052498
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052499
    reference: chr 1
allele count: 1
allele frequency: 9.900401956319427e-6
allele num: 101006
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.304_305insA
  hgvsp: ENSP00000406026.2:p.Cys102Ter
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.283_284insA
  hgvsp: ENSP00000408509.2:p.Cys95Ter
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.304_305insA
  hgvsp: ENSP00000428656.1:p.Cys102Ter
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1371_75-1370insA
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.52_53insA
  hgvsp: ENSP00000364171.1:p.Cys18Ter
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.304_305insA
  hgvsp: ENSP00000428153.1:p.Cys102Ter
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys102Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-21052502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052502
    reference: chr 1
allele count: 5
allele frequency: 5.107356636499213e-5
allele num: 97898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.301G>A
  hgvsp: ENSP00000428153.1:p.Asp101Asn
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.301G>A
  hgvsp: ENSP00000428656.1:p.Asp101Asn
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.280G>A
  hgvsp: ENSP00000408509.2:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.49G>A
  hgvsp: ENSP00000364171.1:p.Asp17Asn
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.301G>A
  hgvsp: ENSP00000406026.2:p.Asp101Asn
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1374G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14900
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp101Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-21052503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052503
    reference: chr 1
allele count: 7
allele frequency: 7.170367942309268e-5
allele num: 97624
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.300C>T
  hgvsp: ENST00000444387.2:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1375C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.279C>T
  hgvsp: ENST00000447746.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.48C>T
  hgvsp: ENST00000375031.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.300C>T
  hgvsp: ENST00000518294.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.300C>T
  hgvsp: ENST00000517430.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala100Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-21052515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052515
    reference: chr 1
allele count: 2
allele frequency: 2.220593786778585e-5
allele num: 90066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.36C>T
  hgvsp: ENST00000375031.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.288C>T
  hgvsp: ENST00000444387.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.267C>T
  hgvsp: ENST00000447746.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.288C>T
  hgvsp: ENST00000518294.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1387C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.288C>T
  hgvsp: ENST00000517430.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr96Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-21052516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052516
    reference: chr 1
allele count: 1
allele frequency: 1.129203459879401e-5
allele num: 88558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.266C>T
  hgvsp: ENSP00000408509.2:p.Thr89Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.287C>T
  hgvsp: ENSP00000428656.1:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.287C>T
  hgvsp: ENSP00000406026.2:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.35C>T
  hgvsp: ENSP00000364171.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.287C>T
  hgvsp: ENSP00000428153.1:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1388C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr96Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

1-21052521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052521
    reference: chr 1
allele count: 3
allele frequency: 3.483106931382794e-5
allele num: 86130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.282C>T
  hgvsp: ENST00000517430.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.282C>T
  hgvsp: ENST00000518294.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.30C>T
  hgvsp: ENST00000375031.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.261C>T
  hgvsp: ENST00000447746.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.282C>T
  hgvsp: ENST00000444387.2:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1393C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr94Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-21052525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052525
    reference: chr 1
allele count: 5
allele frequency: 5.965732830620914e-5
allele num: 83812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.278T>C
  hgvsp: ENSP00000428153.1:p.Leu93Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1397T>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.26T>C
  hgvsp: ENSP00000364171.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.257T>C
  hgvsp: ENSP00000408509.2:p.Leu86Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.278T>C
  hgvsp: ENSP00000406026.2:p.Leu93Pro
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.278T>C
  hgvsp: ENSP00000428656.1:p.Leu93Pro
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12505
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26362
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu93Pro
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-21052529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052529
    reference: chr 1
allele count: 2
allele frequency: 2.469928619062909e-5
allele num: 80974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.22A>G
  hgvsp: ENSP00000364171.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.274A>G
  hgvsp: ENSP00000406026.2:p.Ile92Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.274A>G
  hgvsp: ENSP00000428153.1:p.Ile92Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.274A>G
  hgvsp: ENSP00000428656.1:p.Ile92Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.253A>G
  hgvsp: ENSP00000408509.2:p.Ile85Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1401A>G
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15075
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile92Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-21052531-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052531
    reference: chr 1
allele count: 4
allele frequency: 5.175581605982973e-5
allele num: 77286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.272G>T
  hgvsp: ENSP00000428656.1:p.Arg91Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.20G>T
  hgvsp: ENSP00000364171.1:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1403G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.272G>T
  hgvsp: ENSP00000406026.2:p.Arg91Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.272G>T
  hgvsp: ENSP00000428153.1:p.Arg91Leu
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.251G>T
  hgvsp: ENSP00000408509.2:p.Arg84Leu
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15632
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Arg91Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-21052531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052531
    reference: chr 1
allele count: 4
allele frequency: 5.175581605982973e-5
allele num: 77286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.251G>A
  hgvsp: ENSP00000408509.2:p.Arg84His
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.272G>A
  hgvsp: ENSP00000428656.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.20G>A
  hgvsp: ENSP00000364171.1:p.Arg7His
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.272G>A
  hgvsp: ENSP00000406026.2:p.Arg91His
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.272G>A
  hgvsp: ENSP00000428153.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1403G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15632
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg91His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-21052532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052532
    reference: chr 1
allele count: 6
allele frequency: 7.745733391856652e-5
allele num: 77462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.19C>T
  hgvsp: ENSP00000364171.1:p.Arg7Cys
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1404C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.271C>T
  hgvsp: ENSP00000428153.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.271C>T
  hgvsp: ENSP00000428656.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.271C>T
  hgvsp: ENSP00000406026.2:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.250C>T
  hgvsp: ENSP00000408509.2:p.Arg84Cys
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg91Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-21052538-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052538
    reference: chr 1
allele count: 2
allele frequency: 2.730599093441101e-5
allele num: 73244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.265C>G
  hgvsp: ENSP00000428153.1:p.Leu89Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.13C>G
  hgvsp: ENSP00000364171.1:p.Leu5Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.244C>G
  hgvsp: ENSP00000408509.2:p.Leu82Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1410C>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.265C>G
  hgvsp: ENSP00000406026.2:p.Leu89Val
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.265C>G
  hgvsp: ENSP00000428656.1:p.Leu89Val
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31423
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu89Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-21052539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052539
    reference: chr 1
allele count: 3
allele frequency: 4.125979920231055e-5
allele num: 72710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.264C>T
  hgvsp: ENST00000518294.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.12C>T
  hgvsp: ENST00000375031.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.264C>T
  hgvsp: ENST00000517430.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.243C>T
  hgvsp: ENST00000447746.2:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1411C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.264C>T
  hgvsp: ENST00000444387.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16747
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala88Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-21052544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052544
    reference: chr 1
allele count: 1
allele frequency: 1.456876456876457e-5
allele num: 68640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.238C>T
  hgvsp: ENSP00000408509.2:p.His80Tyr
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1416C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.7C>T
  hgvsp: ENSP00000364171.1:p.His3Tyr
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.259C>T
  hgvsp: ENSP00000406026.2:p.His87Tyr
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.259C>T
  hgvsp: ENSP00000428153.1:p.His87Tyr
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.259C>T
  hgvsp: ENSP00000428656.1:p.His87Tyr
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33372
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His87Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-21052546-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052546
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052546
    reference: chr 1
allele count: 1
allele frequency: 1.535437906891045e-5
allele num: 65128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.257C>G
  hgvsp: ENSP00000428153.1:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1418C>G
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.5C>G
  hgvsp: ENSP00000364171.1:p.Ala2Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.257C>G
  hgvsp: ENSP00000428656.1:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.236C>G
  hgvsp: ENSP00000408509.2:p.Ala79Gly
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.257C>G
  hgvsp: ENSP00000406026.2:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17716
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala86Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-21052559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052559
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052559
    reference: chr 1
allele count: 1
allele frequency: 1.836952129027517e-5
allele num: 54438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223G>A
  hgvsp: ENSP00000408509.2:p.Val75Met
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244G>A
  hgvsp: ENSP00000428656.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1431G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244G>A
  hgvsp: ENSP00000428153.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244G>A
  hgvsp: ENSP00000406026.2:p.Val82Met
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val82Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-21052564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052564
    reference: chr 1
allele count: 3
allele frequency: 5.927682276229994e-5
allele num: 50610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-5G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-5G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-5G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-5G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1436G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-5G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25436
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
hgvs: c.244-5G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-21052565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052565
    reference: chr 1
allele count: 5
allele frequency: 1.001803245842517e-4
allele num: 49910
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-6C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-6C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-6C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1437C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-6C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-6C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25561
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
hgvs: c.244-6C>T
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-21052568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052568
    reference: chr 1
allele count: 1
allele frequency: 2.109259649862898e-5
allele num: 47410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1440C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-9C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-9C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-21052571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052571
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052571
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 44910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-12C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-12C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-12C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1443C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-12C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-12C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25231
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12054
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-21052592-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052592
    reference: chr 1
allele count: 1
allele frequency: 3.071441734750292e-5
allele num: 32558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-33T>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1464T>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-33T>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-33T>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-33T>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-33T>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-21052599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052599
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052599
    reference: chr 1
allele count: 1
allele frequency: 3.622138510576645e-5
allele num: 27608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-40C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-40C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1471C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-40C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-40C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-40C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19580
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6779
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

1-21052602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052602
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 26132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1474G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-43G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-43G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-43G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-43G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-43G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-21052604-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052603
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 25876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-46delG
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-46delG
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-46delG
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-46delG
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-46delG
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1477delG
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: GC
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

1-21052606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21052606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21052606
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 24792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-1478G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.223-47G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.244-47G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.244-47G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-9-47G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.244-47G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 10850
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8927
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7790
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18534
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-21053450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053450
    reference: chr 1
allele count: 1
allele frequency: 1.28109867021958e-5
allele num: 78058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+44G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2322G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+44G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+44G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+512G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+44G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
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genotype depth: GenotypeDepth
  all individuals: 698
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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genotype depth: GenotypeDepth
  all individuals: 298
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genotype depth: GenotypeDepth
  all individuals: 21297
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2236
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genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 469
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genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 15248
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genotype quality: GenotypeQuality
  all individuals: 325
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genotype quality: GenotypeQuality
  all individuals: 1850
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genotype quality: GenotypeQuality
  all individuals: 967
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genotype quality: GenotypeQuality
  all individuals: 6573
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genotype quality: GenotypeQuality
  all individuals: 8965
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-21053451-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053451
    reference: chr 1
allele count: 1
allele frequency: 1.281952670307412e-5
allele num: 78006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+43G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+43G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+43G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+43G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+511G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2323G>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21257
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genotype depth: GenotypeDepth
  all individuals: 20
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genotype depth: GenotypeDepth
  all individuals: 298
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 203
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genotype depth: GenotypeDepth
  all individuals: 92
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genotype depth: GenotypeDepth
  all individuals: 153
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genotype quality: GenotypeQuality
  all individuals: 3073
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genotype quality: GenotypeQuality
  all individuals: 8918
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-21053469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053469
    reference: chr 1
allele count: 1
allele frequency: 1.205109664979513e-5
allele num: 82980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+25G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2341G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+25G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+25G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+493G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+25G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16824
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genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 92
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-21053471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053471
    reference: chr 1
allele count: 1
allele frequency: 1.186324056279213e-5
allele num: 84294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+23G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2343G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+23G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+23G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+491G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+23G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

1-21053473-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053473
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053473
    reference: chr 1
allele count: 1
allele frequency: 1.167760468972604e-5
allele num: 85634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+489A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+21A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+21A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2345A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+21A>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+21A>C
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19291
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 297
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genotype depth: GenotypeDepth
  all individuals: 103
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genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 20428
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 424
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genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 17000
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/1-21053478-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053478
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053478
    reference: chr 1
allele count: 1
allele frequency: 1.123494517346755e-5
allele num: 89008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+16G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+16G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+484G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+16G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2350G>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+16G>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 103
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genotype depth: GenotypeDepth
  all individuals: 20
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genotype depth: GenotypeDepth
  all individuals: 23473
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
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genotype quality: GenotypeQuality
  all individuals: 751
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 622
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genotype quality: GenotypeQuality
  all individuals: 150
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genotype quality: GenotypeQuality
  all individuals: 123
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genotype quality: GenotypeQuality
  all individuals: 317
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genotype quality: GenotypeQuality
  all individuals: 4693
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genotype quality: GenotypeQuality
  all individuals: 15650
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

1-21053481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053481
    reference: chr 1
allele count: 3
allele frequency: 3.292650803406796e-5
allele num: 91112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+13G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+13G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+13G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2353G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+481G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+13G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25726
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 203
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2064
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genotype quality: GenotypeQuality
  all individuals: 501
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 242
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14750
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 790
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genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

1-21053484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053484
    reference: chr 1
allele count: 2
allele frequency: 2.139952921035737e-5
allele num: 93460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+10C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2356C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+10C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+10C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+478C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+10C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-21053484-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053484
    reference: chr 1
allele count: 2
allele frequency: 2.139952921035737e-5
allele num: 93460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2356C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+10C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+10C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+478C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+10C>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+10C>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13741
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-21053486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053486
    reference: chr 1
allele count: 1
allele frequency: 1.054296257248287e-5
allele num: 94850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243+8C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243+8C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243+8C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10+8C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2358C>T
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+476C>T
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
hgvs: c.243+8C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-21053494-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053494
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053494
    reference: chr 1
allele count: 1
allele frequency: 1.000120014401728e-5
allele num: 99988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+468G>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243G>C
  hgvsp: ENSP00000428656.1:p.Glu81Asp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243G>C
  hgvsp: ENSP00000406026.2:p.Glu81Asp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243G>C
  hgvsp: ENSP00000428153.1:p.Glu81Asp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10G>C
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2366G>C
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu81Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-21053494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053494
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053494
    reference: chr 1
allele count: 1
allele frequency: 1.000120014401728e-5
allele num: 99988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2366G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.243G>A
  hgvsp: ENST00000444387.2:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.243G>A
  hgvsp: ENST00000517430.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+468G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.243G>A
  hgvsp: ENST00000518294.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33320
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 6.75e1
  variant carriers: 0
hgvs: c.243G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-21053498-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053498
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053498
    reference: chr 1
allele count: 1
allele frequency: 9.792976477270501e-6
allele num: 102114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+464G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2370G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.239G>A
  hgvsp: ENSP00000428153.1:p.Gly80Asp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.239G>A
  hgvsp: ENSP00000406026.2:p.Gly80Asp
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.239G>A
  hgvsp: ENSP00000428656.1:p.Gly80Asp
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly80Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-21053500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21053500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 21053500
    reference: chr 1
allele count: 1
allele frequency: 9.696687611511907e-6
allele num: 103128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428656
  ensembl transcript: ENST00000517430
  gene symbol: SH2D5
  hgvsc: ENST00000517430.1:c.237G>A
  hgvsp: ENST00000517430.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000428153
  ensembl transcript: ENST00000518294
  gene symbol: SH2D5
  hgvsc: ENST00000518294.1:c.237G>A
  hgvsp: ENST00000518294.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000408509
  ensembl transcript: ENST00000447746
  gene symbol: SH2D5
  hgvsc: ENST00000447746.2:c.222+462G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189410
  ensembl transcript: ENST00000460804
  gene symbol: SH2D5
  hgvsc: ENST00000460804.1:n.75-2372G>A
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000406026
  ensembl transcript: ENST00000444387
  gene symbol: SH2D5
  hgvsc: ENST00000444387.2:c.237G>A
  hgvsp: ENST00000444387.2:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28819
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000189410
  ensembl protein: ENSP00000364171
  ensembl transcript: ENST00000375031
  gene symbol: SH2D5
  hgvsc: ENST00000375031.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/28819
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 35187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu79Glu
num of homozygotes: 0
population: Other
reference allele: C

GenotypeQuality
all individuals: 724
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.054367745876604e-4
allele num: 3274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.76856e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.034e0

FS
type: SiteQuality
SIO_000300: 3.079e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 2.291e1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 362
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.878358150161507e-5
allele num: 25386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.038e1

DP
type: SiteQuality
SIO_000300: 5.76261e5

GenotypeQuality
all individuals: 717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9338
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2942
bin: 2.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.259445843828715e-3
allele num: 1588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 1.048305937604831e-3
allele num: 23848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 5.48042e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.392901071867862e-5
allele num: 22764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: -2.224e0

MQRankSum
type: SiteQuality
SIO_000300: -1.222e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

FS
type: SiteQuality
SIO_000300: 2.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

DP
type: SiteQuality
SIO_000300: 5.23701e5

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 4.681647940074907e-3
allele num: 1068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

DP
type: SiteQuality
SIO_000300: 4.378e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.04814322003145e-5
allele num: 16534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.34857e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

FS
type: SiteQuality
SIO_000300: 5.497e0

VQSLOD
type: SiteQuality
SIO_000300: -2.554e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 8.76e0

GenotypeQuality
all individuals: 17531
bin: 7.5e0
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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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.581545346847439e-5
allele num: 15194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2022
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 4.16798e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.65e-2

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 2.729885057471264e-3
allele num: 13920
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 1.566e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.436156e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13950
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.57143755107172e-5
allele num: 63636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2704e1

QD
type: SiteQuality
SIO_000300: 1.435e1

DP
type: SiteQuality
SIO_000300: 1.435559e6

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: -2.096e0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.272e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 2366
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variant carriers: 0

GenotypeQuality
all individuals: 2291
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 310
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.569908003391001e-4
allele num: 63698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.529827038475115e-4
allele num: 11332
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.263707571801567e-4
allele num: 9192
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.105300554213443e-5
allele num: 14074
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.4593e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 174
bin: 8.75e1
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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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.137648646104609e-5
allele num: 63742
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.101e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.463375e6

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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.860661049902787e-4
allele num: 6172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.134796238244514e-5
allele num: 63800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.965e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

QD
type: SiteQuality
SIO_000300: 1.095e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.18e-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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.254272365244113e-4
allele num: 63782
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.47376e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63798
num of homozygotes: 0

South Asian
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allele frequency: 6.974473427256242e-5
allele num: 14338
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East Asian
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allele frequency: 1.176193836744295e-4
allele num: 8502
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African
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1537e1

DP
type: SiteQuality
SIO_000300: 1.479011e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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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variant carriers: 1

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63812
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European (Finnish)
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African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
type: Population
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allele frequency: 1.175364362952515e-4
allele num: 8508
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Other
type: Population
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allele num: 830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
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ClippingRankSum
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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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.866245536940401e-5
allele num: 14564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 2.953e0

QD
type: SiteQuality
SIO_000300: 8.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.498907e6

GenotypeQuality
all individuals: 6327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
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GenotypeQuality
all individuals: 1404
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 2.582765907490021e-3
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.766444232602478e-4
allele num: 14686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.51121e6

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

FS
type: SiteQuality
SIO_000300: 4.731e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.06928999144568e-4
allele num: 9352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.8791e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.539122e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.167e0

MQRankSum
type: SiteQuality
SIO_000300: -2.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

VQSLOD
type: SiteQuality
SIO_000300: -3.22e0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
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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: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.621926418931411e-5
allele num: 64908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 4.358e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 1.567687e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
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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: 157
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080430028031914e-5
allele num: 64926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

DP
type: SiteQuality
SIO_000300: 1.568565e6

QD
type: SiteQuality
SIO_000300: 8.76e0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6755
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variant carriers: 0

GenotypeQuality
all individuals: 2219
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539598472718315e-5
allele num: 64952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

FS
type: SiteQuality
SIO_000300: 1.006e0

DP
type: SiteQuality
SIO_000300: 1.570024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 583
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
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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
all individuals: 1478
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549810923067386e-5
allele num: 64524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.498e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

DP
type: SiteQuality
SIO_000300: 1.551839e6

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39477
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variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5788
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.102779003087781e-4
allele num: 9068
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63442
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 1.513354e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.16e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

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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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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bin: 3.25e1
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: 5788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
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: 11014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576242867501025e-5
allele num: 63442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.16e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e0

DP
type: SiteQuality
SIO_000300: 1.513354e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.189894414494881e-5
allele num: 62698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
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
all individuals: 2214
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62726
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.242152466367713e-4
allele num: 8920
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.5552574421873e-4
allele num: 15654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 2.482e0

InbreedingCoeff
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SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.242e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.494435e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5493
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.188470490705609e-5
allele num: 62726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.788908765652952e-4
allele num: 5590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.494435e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 2.482e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2207
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 745
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598261091931978e-5
allele num: 62568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 7.37e0

DP
type: SiteQuality
SIO_000300: 1.488046e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5767
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600717121270329e-5
allele num: 62472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15580
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.12637981527371e-4
allele num: 8878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.185e1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

DP
type: SiteQuality
SIO_000300: 1.485052e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

FS
type: SiteQuality
SIO_000300: 6.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

GenotypeQuality
all individuals: 781
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 530
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1062
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 409
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1088
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5970
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5024
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 888
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35970
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.652892561983471e-4
allele num: 60500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.453488372093023e-3
allele num: 4816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

VQSLOD
type: SiteQuality
SIO_000300: -1.419e1

QD
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.3583e1

DP
type: SiteQuality
SIO_000300: 1.477351e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 839
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35970
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.730415319572246e-4
allele num: 8042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.419e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.477351e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 5.3583e1

GenotypeQuality
all individuals: 922
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5288
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.611915277733003e-5
allele num: 62038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.217e0

VQSLOD
type: SiteQuality
SIO_000300: -7.484e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.534e0

DP
type: SiteQuality
SIO_000300: 1.473986e6

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 9.9e0

GenotypeQuality
all individuals: 957
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.022926500337154e-4
allele num: 14830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.423081e6

QD
type: SiteQuality
SIO_000300: 7.86e0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.0755500207555e-4
allele num: 4818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.332e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

DP
type: SiteQuality
SIO_000300: 1.34894e6

MQ
type: SiteQuality
SIO_000300: 5.889e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 14750
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29737
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.762860064168106e-5
allele num: 56726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

QD
type: SiteQuality
SIO_000300: 2.592e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.51e-1

MQ
type: SiteQuality
SIO_000300: 6.058e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

DP
type: SiteQuality
SIO_000300: 1.312663e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
all individuals: 2158
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13946
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.089917463549431e-5
allele num: 55006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 3.284e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 1.25408e6

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26692
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.184940364994971e-5
allele num: 13918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.410835214446952e-4
allele num: 7088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8698
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.330716637123322e-4
allele num: 7898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54854
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 1.251266e6

QD
type: SiteQuality
SIO_000300: 1.682e1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
all individuals: 434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.949759064697053e-5
allele num: 50636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 1.328e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.133273e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
all individuals: 2148
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 540
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13122
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.01118217288122e-5
allele num: 49722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.923999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.7e-1

FS
type: SiteQuality
SIO_000300: 4.328e0

QD
type: SiteQuality
SIO_000300: 7.1e0

DP
type: SiteQuality
SIO_000300: 1.111638e6

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.617599482368166e-4
allele num: 6182
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.824060999717594e-4
allele num: 7082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

FS
type: SiteQuality
SIO_000300: 1.779e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.083034e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

GenotypeQuality
all individuals: 1363
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.513536523071684e-5
allele num: 46984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.791736460078169e-4
allele num: 3582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

DP
type: SiteQuality
SIO_000300: 1.052818e6

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
all individuals: 16248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.414036636504083e-5
allele num: 45310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

QD
type: SiteQuality
SIO_000300: 1.103e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.017207e6

FS
type: SiteQuality
SIO_000300: 1.448e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 956
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.247272054743851e-5
allele num: 43256
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.596e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.079e1

DP
type: SiteQuality
SIO_000300: 9.90121e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 481
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28629
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.811594202898551e-4
allele num: 5520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.493351063829787e-4
allele num: 12032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

FS
type: SiteQuality
SIO_000300: 5.596e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 9.90121e5

GenotypeQuality
all individuals: 793
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.383700013837e-4
allele num: 43362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 1.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 9.84306e5

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.717622810030917e-4
allele num: 11644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

DP
type: SiteQuality
SIO_000300: 9.3241e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 3.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeQuality
all individuals: 11718
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.394262052647145e-5
allele num: 40572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5170
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 4.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.25776e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.736111111111111e-4
allele num: 5760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.366e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.82649e5

FS
type: SiteQuality
SIO_000300: 6.314e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.079e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.754365669586294e-5
allele num: 36306
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.448e-1

DP
type: SiteQuality
SIO_000300: 8.48199e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 2.134e1

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.30622231038815e-5
allele num: 30246
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.163e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 8.881e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e0

DP
type: SiteQuality
SIO_000300: 7.56289e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.197319270490002e-4
allele num: 9102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.554923569143263e-5
allele num: 28130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 4.55e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 7.2975e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2147
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.780346820809249e-4
allele num: 3460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 9.019843656043296e-4
allele num: 3326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 7.22956e5

VQSLOD
type: SiteQuality
SIO_000300: -2.492e0

FS
type: SiteQuality
SIO_000300: 1.8705e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.814173468609352e-5
allele num: 26218
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 7.01266e5

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 8576
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

Latino
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: 4062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24726
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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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variant carriers: 0

African
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allele count: 1
allele frequency: 3.136762860727729e-4
allele num: 3188
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 17716
num of homozygotes: 0

East Asian
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South Asian
type: Population
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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DP
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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East Asian
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European (Finnish)
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Latino
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African
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 6.737636437137851e-5
allele num: 14842
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
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MQRankSum
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DP
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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East Asian
type: Population
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

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

InbreedingCoeff
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FS
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1160
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13800
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

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

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

South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.213466731595024e-5
allele num: 45178
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 1.071581654522075e-4
allele num: 9332
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
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MQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47742
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6722
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4824
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Latino
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allele count: 1
allele frequency: 1.436781609195402e-4
allele num: 6960
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 594
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.0631318341242e-5
allele num: 48470
num of homozygotes: 0

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

Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Other
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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Latino
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African
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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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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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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FS
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 53324
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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Other
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QD
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 1
allele frequency: 8.507742045261188e-5
allele num: 11754
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.875328182431926e-5
allele num: 53324
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

DP
type: SiteQuality
SIO_000300: 1.145349e6

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 8.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 528
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11926
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.848838929152492e-5
allele num: 54088
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.162735e6

QD
type: SiteQuality
SIO_000300: 1.04e1

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.513e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.786e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10805
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764664360838569e-5
allele num: 56668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.975e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

DP
type: SiteQuality
SIO_000300: 1.230252e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.339e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 7.89e0

GenotypeQuality
all individuals: 35813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1876
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764664360838569e-5
allele num: 56668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.339e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

DP
type: SiteQuality
SIO_000300: 1.230252e6

FS
type: SiteQuality
SIO_000300: 1.975e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

GenotypeQuality
all individuals: 375
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.731721677691961e-5
allele num: 57746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.916e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.105e0

FS
type: SiteQuality
SIO_000300: 1.225e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 3.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.258208e6

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0