9-112900196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900196
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900196
    reference: chr 9
allele count: 2
allele frequency: 1.654150263009892e-5
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1679C>T
  hgvsp: ENSP00000259318.7:p.Pro560Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2372C>T
  hgvsp: ENSP00000451476.1:p.Pro791Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2372C>T
  hgvsp: ENSP00000363654.3:p.Pro791Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2372C>T
  hgvsp: ENSP00000421522.5:p.Pro791Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1826C>T
  hgvsp: ENSP00000419268.1:p.Pro609Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18403C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1946C>T
  hgvsp: ENSP00000404782.2:p.Pro649Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1946C>T
  hgvsp: ENSP00000363649.1:p.Pro649Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2372C>T
  hgvsp: ENSP00000305861.7:p.Pro791Leu
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro791Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

9-112900197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900197
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900197
    reference: chr 9
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18402G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1680G>A
  hgvsp: ENST00000259318.7:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1827G>A
  hgvsp: ENST00000480388.1:c.1827G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1947G>A
  hgvsp: ENST00000374525.1:c.1947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2373G>A
  hgvsp: ENST00000374530.3:c.2373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2373G>A
  hgvsp: ENST00000302798.7:c.2373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2373G>A
  hgvsp: ENST00000510514.5:c.2373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1947G>A
  hgvsp: ENST00000434623.2:c.1947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2373G>A
  hgvsp: ENST00000555236.1:c.2373G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro791Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

9-112900199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900199
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900199
    reference: chr 9
allele count: 56561
allele frequency: 4.673922025550763e-1
allele num: 121014
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2375T>C
  hgvsp: ENSP00000363654.3:p.Leu792Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2375T>C
  hgvsp: ENSP00000421522.5:p.Leu792Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1829T>C
  hgvsp: ENSP00000419268.1:p.Leu610Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2375T>C
  hgvsp: ENSP00000305861.7:p.Leu792Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1949T>C
  hgvsp: ENSP00000363649.1:p.Leu650Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1949T>C
  hgvsp: ENSP00000404782.2:p.Leu650Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1682T>C
  hgvsp: ENSP00000259318.7:p.Leu561Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2375T>C
  hgvsp: ENSP00000451476.1:p.Leu792Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18400T>C
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.25e1
  variant carriers: 1923
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 4.75e1
  variant carriers: 5273
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 1651
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 2.75e1
  variant carriers: 1119
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 6.25e1
  variant carriers: 4331
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 2.25e1
  variant carriers: 667
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 5.75e1
  variant carriers: 5069
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 4.25e1
  variant carriers: 4290
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 2318
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 6.75e1
  variant carriers: 3191
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 1161
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 5.25e1
  variant carriers: 5490
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 3102
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.25e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 8.75e1
  variant carriers: 754
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 7.75e1
  variant carriers: 1603
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 66
hgvs: p.Leu792Ser
num of homozygotes: 13520
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

9-112900200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900200
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900200
    reference: chr 9
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2376G>A
  hgvsp: ENST00000555236.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2376G>A
  hgvsp: ENST00000302798.7:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1683G>A
  hgvsp: ENST00000259318.7:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1830G>A
  hgvsp: ENST00000480388.1:c.1830G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2376G>A
  hgvsp: ENST00000510514.5:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2376G>A
  hgvsp: ENST00000374530.3:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1950G>A
  hgvsp: ENST00000434623.2:c.1950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18399G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1950G>A
  hgvsp: ENST00000374525.1:c.1950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu792Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

9-112900208-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900208
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900208
    reference: chr 9
allele count: 2
allele frequency: 1.654068180690408e-5
allele num: 120914
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2384A>T
  hgvsp: ENSP00000451476.1:p.Asp795Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1958A>T
  hgvsp: ENSP00000363649.1:p.Asp653Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2384A>T
  hgvsp: ENSP00000305861.7:p.Asp795Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2384A>T
  hgvsp: ENSP00000363654.3:p.Asp795Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1838A>T
  hgvsp: ENSP00000419268.1:p.Asp613Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18391A>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1691A>T
  hgvsp: ENSP00000259318.7:p.Asp564Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1958A>T
  hgvsp: ENSP00000404782.2:p.Asp653Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2384A>T
  hgvsp: ENSP00000421522.5:p.Asp795Val
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp795Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

9-112900220-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900220
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900220
    reference: chr 9
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2396A>G
  hgvsp: ENSP00000363654.3:p.Tyr799Cys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2396A>G
  hgvsp: ENSP00000305861.7:p.Tyr799Cys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1850A>G
  hgvsp: ENSP00000419268.1:p.Tyr617Cys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18379A>G
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1970A>G
  hgvsp: ENSP00000404782.2:p.Tyr657Cys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1970A>G
  hgvsp: ENSP00000363649.1:p.Tyr657Cys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2396A>G
  hgvsp: ENSP00000421522.5:p.Tyr799Cys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2396A>G
  hgvsp: ENSP00000451476.1:p.Tyr799Cys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1703A>G
  hgvsp: ENSP00000259318.7:p.Tyr568Cys
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr799Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

9-112900224-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900224
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900224
    reference: chr 9
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1974G>C
  hgvsp: ENSP00000404782.2:p.Gln658His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1707G>C
  hgvsp: ENSP00000259318.7:p.Gln569His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2400G>C
  hgvsp: ENSP00000363654.3:p.Gln800His
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1974G>C
  hgvsp: ENSP00000363649.1:p.Gln658His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2400G>C
  hgvsp: ENSP00000305861.7:p.Gln800His
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2400G>C
  hgvsp: ENSP00000421522.5:p.Gln800His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1854G>C
  hgvsp: ENSP00000419268.1:p.Gln618His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18375G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2400G>C
  hgvsp: ENSP00000451476.1:p.Gln800His
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln800His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

9-112900227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900227
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900227
    reference: chr 9
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2403T>C
  hgvsp: ENST00000374530.3:c.2403T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2403T>C
  hgvsp: ENST00000302798.7:c.2403T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1977T>C
  hgvsp: ENST00000374525.1:c.1977T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2403T>C
  hgvsp: ENST00000510514.5:c.2403T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1710T>C
  hgvsp: ENST00000259318.7:c.1710T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18372T>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2403T>C
  hgvsp: ENST00000555236.1:c.2403T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1857T>C
  hgvsp: ENST00000480388.1:c.1857T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1977T>C
  hgvsp: ENST00000434623.2:c.1977T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9214
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala801Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

9-112900228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900228
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900228
    reference: chr 9
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18371G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2404G>A
  hgvsp: ENSP00000421522.5:p.Gly802Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2404G>A
  hgvsp: ENSP00000305861.7:p.Gly802Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1858G>A
  hgvsp: ENSP00000419268.1:p.Gly620Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1978G>A
  hgvsp: ENSP00000404782.2:p.Gly660Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1711G>A
  hgvsp: ENSP00000259318.7:p.Gly571Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2404G>A
  hgvsp: ENSP00000363654.3:p.Gly802Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1978G>A
  hgvsp: ENSP00000363649.1:p.Gly660Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2404G>A
  hgvsp: ENSP00000451476.1:p.Gly802Ser
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly802Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

9-112900229-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900229
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900229
    reference: chr 9
allele count: 2
allele frequency: 1.660853678790898e-5
allele num: 120420
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2405G>C
  hgvsp: ENSP00000363654.3:p.Gly802Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2405G>C
  hgvsp: ENSP00000305861.7:p.Gly802Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1979G>C
  hgvsp: ENSP00000404782.2:p.Gly660Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2405G>C
  hgvsp: ENSP00000421522.5:p.Gly802Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1712G>C
  hgvsp: ENSP00000259318.7:p.Gly571Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2405G>C
  hgvsp: ENSP00000451476.1:p.Gly802Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1979G>C
  hgvsp: ENSP00000363649.1:p.Gly660Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18370G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1859G>C
  hgvsp: ENSP00000419268.1:p.Gly620Ala
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly802Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

9-112900229-GCCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900229
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900226
    reference: chr 9
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2409_2411delCCT
  hgvsp: ENSP00000421522.5:p.Leu804del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2409_2411delCCT
  hgvsp: ENSP00000305861.7:p.Leu804del
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18366_157-18364delCCT
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2409_2411delCCT
  hgvsp: ENSP00000451476.1:p.Leu804del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1983_1985delCCT
  hgvsp: ENSP00000404782.2:p.Leu662del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1983_1985delCCT
  hgvsp: ENSP00000363649.1:p.Leu662del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1863_1865delCCT
  hgvsp: ENSP00000419268.1:p.Leu622del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1716_1718delCCT
  hgvsp: ENSP00000259318.7:p.Leu573del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2409_2411delCCT
  hgvsp: ENSP00000363654.3:p.Leu804del
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu804del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: GCCT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

9-112900229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900229
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900229
    reference: chr 9
allele count: 2
allele frequency: 1.660853678790898e-5
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2405G>A
  hgvsp: ENSP00000305861.7:p.Gly802Asp
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2405G>A
  hgvsp: ENSP00000363654.3:p.Gly802Asp
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1712G>A
  hgvsp: ENSP00000259318.7:p.Gly571Asp
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1859G>A
  hgvsp: ENSP00000419268.1:p.Gly620Asp
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1979G>A
  hgvsp: ENSP00000404782.2:p.Gly660Asp
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2405G>A
  hgvsp: ENSP00000421522.5:p.Gly802Asp
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1979G>A
  hgvsp: ENSP00000363649.1:p.Gly660Asp
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2405G>A
  hgvsp: ENSP00000451476.1:p.Gly802Asp
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18370G>A
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly802Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-112900241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900241
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900241
    reference: chr 9
allele count: 1
allele frequency: 8.319605983460623e-6
allele num: 120198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1991A>C
  hgvsp: ENSP00000363649.1:p.Gln664Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2417A>C
  hgvsp: ENSP00000421522.5:p.Gln806Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2417A>C
  hgvsp: ENSP00000363654.3:p.Gln806Pro
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2417A>C
  hgvsp: ENSP00000451476.1:p.Gln806Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2417A>C
  hgvsp: ENSP00000305861.7:p.Gln806Pro
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1871A>C
  hgvsp: ENSP00000419268.1:p.Gln624Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1724A>C
  hgvsp: ENSP00000259318.7:p.Gln575Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18358A>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1991A>C
  hgvsp: ENSP00000404782.2:p.Gln664Pro
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln806Pro
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

9-112900246-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900246
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900246
    reference: chr 9
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18353G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1996G>C
  hgvsp: ENSP00000363649.1:p.Ala666Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1996G>C
  hgvsp: ENSP00000404782.2:p.Ala666Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1876G>C
  hgvsp: ENSP00000419268.1:p.Ala626Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1729G>C
  hgvsp: ENSP00000259318.7:p.Ala577Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2422G>C
  hgvsp: ENSP00000421522.5:p.Ala808Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2422G>C
  hgvsp: ENSP00000305861.7:p.Ala808Pro
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2422G>C
  hgvsp: ENSP00000451476.1:p.Ala808Pro
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2422G>C
  hgvsp: ENSP00000363654.3:p.Ala808Pro
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala808Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum

9-112900249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900249
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900249
    reference: chr 9
allele count: 2
allele frequency: 1.668362835549475e-5
allele num: 119878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1999A>G
  hgvsp: ENSP00000404782.2:p.Ile667Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1732A>G
  hgvsp: ENSP00000259318.7:p.Ile578Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2425A>G
  hgvsp: ENSP00000421522.5:p.Ile809Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18350A>G
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2425A>G
  hgvsp: ENSP00000305861.7:p.Ile809Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1999A>G
  hgvsp: ENSP00000363649.1:p.Ile667Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2425A>G
  hgvsp: ENSP00000451476.1:p.Ile809Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2425A>G
  hgvsp: ENSP00000363654.3:p.Ile809Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1879A>G
  hgvsp: ENSP00000419268.1:p.Ile627Val
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15635
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile809Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-112900249-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900249
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900249
    reference: chr 9
allele count: 1
allele frequency: 8.341814177747376e-6
allele num: 119878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18350A>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2425A>T
  hgvsp: ENSP00000363654.3:p.Ile809Phe
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1732A>T
  hgvsp: ENSP00000259318.7:p.Ile578Phe
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2425A>T
  hgvsp: ENSP00000451476.1:p.Ile809Phe
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.1999A>T
  hgvsp: ENSP00000363649.1:p.Ile667Phe
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1879A>T
  hgvsp: ENSP00000419268.1:p.Ile627Phe
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.1999A>T
  hgvsp: ENSP00000404782.2:p.Ile667Phe
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2425A>T
  hgvsp: ENSP00000421522.5:p.Ile809Phe
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2425A>T
  hgvsp: ENSP00000305861.7:p.Ile809Phe
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22841
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile809Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/9-112900252-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900252
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900252
    reference: chr 9
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2002C>A
  hgvsp: ENSP00000404782.2:p.Gln668Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1882C>A
  hgvsp: ENSP00000419268.1:p.Gln628Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2428C>A
  hgvsp: ENSP00000363654.3:p.Gln810Lys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1735C>A
  hgvsp: ENSP00000259318.7:p.Gln579Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2002C>A
  hgvsp: ENSP00000363649.1:p.Gln668Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2428C>A
  hgvsp: ENSP00000451476.1:p.Gln810Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2428C>A
  hgvsp: ENSP00000421522.5:p.Gln810Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2428C>A
  hgvsp: ENSP00000305861.7:p.Gln810Lys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18347C>A
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30963
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln810Lys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/9-112900255-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900255
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900255
    reference: chr 9
allele count: 174
allele frequency: 1.51083634342873e-3
allele num: 115168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2431C>A
  hgvsp: ENSP00000451476.1:p.Gln811Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2431C>A
  hgvsp: ENSP00000363654.3:p.Gln811Lys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2005C>A
  hgvsp: ENSP00000363649.1:p.Gln669Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1885C>A
  hgvsp: ENSP00000419268.1:p.Gln629Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2431C>A
  hgvsp: ENSP00000305861.7:p.Gln811Lys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2005C>A
  hgvsp: ENSP00000404782.2:p.Gln669Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1738C>A
  hgvsp: ENSP00000259318.7:p.Gln580Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18344C>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2431C>A
  hgvsp: ENSP00000421522.5:p.Gln811Lys
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22376
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 2.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 6
hgvs: p.Gln811Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

9-112900266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900266
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900266
    reference: chr 9
allele count: 2
allele frequency: 1.668724760537997e-5
allele num: 119852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18333C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2442C>T
  hgvsp: ENST00000555236.1:c.2442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2016C>T
  hgvsp: ENST00000374525.1:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1896C>T
  hgvsp: ENST00000480388.1:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2442C>T
  hgvsp: ENST00000302798.7:c.2442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1749C>T
  hgvsp: ENST00000259318.7:c.1749C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2016C>T
  hgvsp: ENST00000434623.2:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2442C>T
  hgvsp: ENST00000374530.3:c.2442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2442C>T
  hgvsp: ENST00000510514.5:c.2442C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15977
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7721
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala814Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

9-112900271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900271
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900271
    reference: chr 9
allele count: 2
allele frequency: 1.669226146758363e-5
allele num: 119816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1901A>G
  hgvsp: ENSP00000419268.1:p.Gln634Arg
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2021A>G
  hgvsp: ENSP00000363649.1:p.Gln674Arg
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1754A>G
  hgvsp: ENSP00000259318.7:p.Gln585Arg
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2447A>G
  hgvsp: ENSP00000363654.3:p.Gln816Arg
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2447A>G
  hgvsp: ENSP00000451476.1:p.Gln816Arg
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2447A>G
  hgvsp: ENSP00000305861.7:p.Gln816Arg
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2447A>G
  hgvsp: ENSP00000421522.5:p.Gln816Arg
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2021A>G
  hgvsp: ENSP00000404782.2:p.Gln674Arg
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18328A>G
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln816Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-112900283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900283
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900283
    reference: chr 9
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2459C>T
  hgvsp: ENSP00000451476.1:p.Ala820Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2459C>T
  hgvsp: ENSP00000305861.7:p.Ala820Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2459C>T
  hgvsp: ENSP00000363654.3:p.Ala820Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2033C>T
  hgvsp: ENSP00000363649.1:p.Ala678Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1913C>T
  hgvsp: ENSP00000419268.1:p.Ala638Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2459C>T
  hgvsp: ENSP00000421522.5:p.Ala820Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2033C>T
  hgvsp: ENSP00000404782.2:p.Ala678Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18316C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1766C>T
  hgvsp: ENSP00000259318.7:p.Ala589Val
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala820Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

9-112900284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900284
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900284
    reference: chr 9
allele count: 3
allele frequency: 2.50689395838556e-5
allele num: 119670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2460T>C
  hgvsp: ENST00000510514.5:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2034T>C
  hgvsp: ENST00000434623.2:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2460T>C
  hgvsp: ENST00000302798.7:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1767T>C
  hgvsp: ENST00000259318.7:c.1767T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18315T>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2034T>C
  hgvsp: ENST00000374525.1:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1914T>C
  hgvsp: ENST00000480388.1:c.1914T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2460T>C
  hgvsp: ENST00000374530.3:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2460T>C
  hgvsp: ENST00000555236.1:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19899
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala820Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

9-112900294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900294
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900294
    reference: chr 9
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2044A>G
  hgvsp: ENSP00000363649.1:p.Thr682Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1777A>G
  hgvsp: ENSP00000259318.7:p.Thr593Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2470A>G
  hgvsp: ENSP00000451476.1:p.Thr824Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1924A>G
  hgvsp: ENSP00000419268.1:p.Thr642Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2470A>G
  hgvsp: ENSP00000363654.3:p.Thr824Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2044A>G
  hgvsp: ENSP00000404782.2:p.Thr682Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18305A>G
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2470A>G
  hgvsp: ENSP00000305861.7:p.Thr824Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2470A>G
  hgvsp: ENSP00000421522.5:p.Thr824Ala
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr824Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

9-112900305-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900305
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900305
    reference: chr 9
allele count: 1
allele frequency: 8.384759860477596e-6
allele num: 119264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2481T>A
  hgvsp: ENSP00000451476.1:p.Asp827Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2481T>A
  hgvsp: ENSP00000305861.7:p.Asp827Glu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2055T>A
  hgvsp: ENSP00000404782.2:p.Asp685Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18294T>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1935T>A
  hgvsp: ENSP00000419268.1:p.Asp645Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1788T>A
  hgvsp: ENSP00000259318.7:p.Asp596Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2055T>A
  hgvsp: ENSP00000363649.1:p.Asp685Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2481T>A
  hgvsp: ENSP00000363654.3:p.Asp827Glu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2481T>A
  hgvsp: ENSP00000421522.5:p.Asp827Glu
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp827Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-112900324-CCTGAAGCGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900324
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900315
    reference: chr 9
allele count: 1
allele frequency: 8.480181815098116e-6
allele num: 117922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsp: ENSP00000404782.2:p.Glu693_Thr695del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsp: ENSP00000259318.7:p.Glu604_Thr606del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsp: ENSP00000363654.3:p.Glu835_Thr837del
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsp: ENSP00000363649.1:p.Glu693_Thr695del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsp: ENSP00000419268.1:p.Glu653_Thr655del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsp: ENSP00000421522.5:p.Glu835_Thr837del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsp: ENSP00000451476.1:p.Glu835_Thr837del
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsp: ENSP00000305861.7:p.Glu835_Thr837del
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6519
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu835_Thr837del
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: CCTGAAGCGA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

9-112900327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900327
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900327
    reference: chr 9
allele count: 4
allele frequency: 3.394548355341322e-5
allele num: 117836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2077G>A
  hgvsp: ENSP00000363649.1:p.Glu693Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2077G>A
  hgvsp: ENSP00000404782.2:p.Glu693Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2503G>A
  hgvsp: ENSP00000363654.3:p.Glu835Lys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2503G>A
  hgvsp: ENSP00000451476.1:p.Glu835Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1957G>A
  hgvsp: ENSP00000419268.1:p.Glu653Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2503G>A
  hgvsp: ENSP00000421522.5:p.Glu835Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1810G>A
  hgvsp: ENSP00000259318.7:p.Glu604Lys
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2503G>A
  hgvsp: ENSP00000305861.7:p.Glu835Lys
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18272G>A
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16955
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu835Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-112900331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900331
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900331
    reference: chr 9
allele count: 22
allele frequency: 1.920759922471145e-4
allele num: 114538
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2507C>T
  hgvsp: ENSP00000363654.3:p.Ala836Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2081C>T
  hgvsp: ENSP00000363649.1:p.Ala694Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2081C>T
  hgvsp: ENSP00000404782.2:p.Ala694Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1814C>T
  hgvsp: ENSP00000259318.7:p.Ala605Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2507C>T
  hgvsp: ENSP00000421522.5:p.Ala836Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2507C>T
  hgvsp: ENSP00000305861.7:p.Ala836Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2507C>T
  hgvsp: ENSP00000451476.1:p.Ala836Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18268C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1961C>T
  hgvsp: ENSP00000419268.1:p.Ala654Val
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18729
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16723
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala836Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

9-112900332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900332
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900332
    reference: chr 9
allele count: 12
allele frequency: 1.06588975147004e-4
allele num: 112582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2508G>A
  hgvsp: ENST00000510514.5:c.2508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2508G>A
  hgvsp: ENST00000374530.3:c.2508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18267G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2508G>A
  hgvsp: ENST00000302798.7:c.2508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2082G>A
  hgvsp: ENST00000374525.1:c.2082G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1962G>A
  hgvsp: ENST00000480388.1:c.1962G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1815G>A
  hgvsp: ENST00000259318.7:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2508G>A
  hgvsp: ENST00000555236.1:c.2508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2082G>A
  hgvsp: ENST00000434623.2:c.2082G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18554
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala836Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

9-112900335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900335
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900335
    reference: chr 9
allele count: 1
allele frequency: 9.280225695088904e-6
allele num: 107756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1818T>C
  hgvsp: ENST00000259318.7:c.1818T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2511T>C
  hgvsp: ENST00000374530.3:c.2511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18264T>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1965T>C
  hgvsp: ENST00000480388.1:c.1965T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2085T>C
  hgvsp: ENST00000374525.1:c.2085T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2511T>C
  hgvsp: ENST00000302798.7:c.2511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2085T>C
  hgvsp: ENST00000434623.2:c.2085T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2511T>C
  hgvsp: ENST00000555236.1:c.2511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2511T>C
  hgvsp: ENST00000510514.5:c.2511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr837Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

9-112900341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900341
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900341
    reference: chr 9
allele count: 1006
allele frequency: 8.482865623313546e-3
allele num: 118592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18258G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2517G>A
  hgvsp: ENST00000374530.3:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2517G>A
  hgvsp: ENST00000510514.5:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2517G>A
  hgvsp: ENST00000555236.1:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2517G>A
  hgvsp: ENST00000302798.7:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2091G>A
  hgvsp: ENST00000374525.1:c.2091G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2091G>A
  hgvsp: ENST00000434623.2:c.2091G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1971G>A
  hgvsp: ENST00000480388.1:c.1971G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1824G>A
  hgvsp: ENST00000259318.7:c.1824G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 18119
  bin: 2.75e1
  variant carriers: 176
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 3
hgvs: p.Glu839Glu
num of homozygotes: 9
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-112900341-G-GGAAGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900341
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900347
    reference: chr 9
allele count: 14962
allele frequency: 1.261636535348084e-1
allele num: 118592
alternate allele: GGAAGCT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2525_2530dupAAGCTG
  hgvsp: ENSP00000363654.3:p.Glu842_Ala843dup
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2099_2104dupAAGCTG
  hgvsp: ENSP00000363649.1:p.Glu700_Ala701dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2525_2530dupAAGCTG
  hgvsp: ENSP00000421522.5:p.Glu842_Ala843dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1979_1984dupAAGCTG
  hgvsp: ENSP00000419268.1:p.Glu660_Ala661dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2525_2530dupAAGCTG
  hgvsp: ENSP00000305861.7:p.Glu842_Ala843dup
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1832_1837dupAAGCTG
  hgvsp: ENSP00000259318.7:p.Glu611_Ala612dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2099_2104dupAAGCTG
  hgvsp: ENSP00000404782.2:p.Glu700_Ala701dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2525_2530dupAAGCTG
  hgvsp: ENSP00000451476.1:p.Glu842_Ala843dup
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 1.25e1
  variant carriers: 1195
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.75e1
  variant carriers: 1149
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 1621
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.75e1
  variant carriers: 2436
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 540
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 823
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 18119
  bin: 2.75e1
  variant carriers: 2384
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.25e1
  variant carriers: 2875
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 165
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 2.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 25510
  bin: 6.25e1
  variant carriers: 75
hgvs: p.Glu842_Ala843dup
num of homozygotes: 916
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

9-112900341-G-GGAAGCTGAAGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900341
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900353
    reference: chr 9
allele count: 1
allele frequency: 8.432271991365354e-6
allele num: 118592
alternate allele: GGAAGCTGAAGCT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsp: ENSP00000404782.2:p.Glu698_Ala701dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsp: ENSP00000451476.1:p.Glu840_Ala843dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsp: ENSP00000305861.7:p.Glu840_Ala843dup
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsp: ENSP00000421522.5:p.Glu840_Ala843dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsp: ENSP00000363649.1:p.Glu698_Ala701dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsp: ENSP00000419268.1:p.Glu658_Ala661dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsp: ENSP00000259318.7:p.Glu609_Ala612dup
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsp: ENSP00000363654.3:p.Glu840_Ala843dup
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu840_Ala843dup
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

9-112900343-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900343
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900343
    reference: chr 9
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2093A>G
  hgvsp: ENSP00000363649.1:p.Glu698Gly
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2093A>G
  hgvsp: ENSP00000404782.2:p.Glu698Gly
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2519A>G
  hgvsp: ENSP00000363654.3:p.Glu840Gly
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2519A>G
  hgvsp: ENSP00000305861.7:p.Glu840Gly
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2519A>G
  hgvsp: ENSP00000451476.1:p.Glu840Gly
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1826A>G
  hgvsp: ENSP00000259318.7:p.Glu609Gly
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18256A>G
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2519A>G
  hgvsp: ENSP00000421522.5:p.Glu840Gly
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1973A>G
  hgvsp: ENSP00000419268.1:p.Glu658Gly
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu840Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-112900351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900351
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900351
    reference: chr 9
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1981G>A
  hgvsp: ENSP00000419268.1:p.Ala661Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18248G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2101G>A
  hgvsp: ENSP00000363649.1:p.Ala701Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2527G>A
  hgvsp: ENSP00000421522.5:p.Ala843Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2527G>A
  hgvsp: ENSP00000451476.1:p.Ala843Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2527G>A
  hgvsp: ENSP00000305861.7:p.Ala843Thr
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2101G>A
  hgvsp: ENSP00000404782.2:p.Ala701Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2527G>A
  hgvsp: ENSP00000363654.3:p.Ala843Thr
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1834G>A
  hgvsp: ENSP00000259318.7:p.Ala612Thr
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala843Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

9-112900352-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900352
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900352
    reference: chr 9
allele count: 1
allele frequency: 8.376191513242758e-6
allele num: 119386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1835C>T
  hgvsp: ENSP00000259318.7:p.Ala612Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2528C>T
  hgvsp: ENSP00000305861.7:p.Ala843Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2102C>T
  hgvsp: ENSP00000363649.1:p.Ala701Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18247C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2528C>T
  hgvsp: ENSP00000421522.5:p.Ala843Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2102C>T
  hgvsp: ENSP00000404782.2:p.Ala701Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2528C>T
  hgvsp: ENSP00000363654.3:p.Ala843Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2528C>T
  hgvsp: ENSP00000451476.1:p.Ala843Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1982C>T
  hgvsp: ENSP00000419268.1:p.Ala661Val
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19437
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala843Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

9-112900353-T-TGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900353
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900356
    reference: chr 9
allele count: 1
allele frequency: 8.368621018628551e-6
allele num: 119494
alternate allele: TGAA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2104_2105insAAG
  hgvsp: ENSP00000404782.2:p.Ala701_Ala702insGlu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1837_1838insAAG
  hgvsp: ENSP00000259318.7:p.Ala612_Ala613insGlu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1984_1985insAAG
  hgvsp: ENSP00000419268.1:p.Ala661_Ala662insGlu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2530_2531insAAG
  hgvsp: ENSP00000421522.5:p.Ala843_Ala844insGlu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2104_2105insAAG
  hgvsp: ENSP00000363649.1:p.Ala701_Ala702insGlu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2530_2531insAAG
  hgvsp: ENSP00000451476.1:p.Ala843_Ala844insGlu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2530_2531insAAG
  hgvsp: ENSP00000363654.3:p.Ala843_Ala844insGlu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2530_2531insAAG
  hgvsp: ENSP00000305861.7:p.Ala843_Ala844insGlu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18245_157-18244insAAG
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala843_Ala844insGlu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

9-112900355-C-CTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900355
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900358
    reference: chr 9
allele count: 1
allele frequency: 9.162879343204808e-6
allele num: 109136
alternate allele: CTGT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2531_2532insTGT
  hgvsp: ENSP00000451476.1:p.Ala844_Ala845insVal
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2531_2532insTGT
  hgvsp: ENSP00000363654.3:p.Ala844_Ala845insVal
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18244_157-18243insTGT
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1985_1986insTGT
  hgvsp: ENSP00000419268.1:p.Ala662_Ala663insVal
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2531_2532insTGT
  hgvsp: ENSP00000305861.7:p.Ala844_Ala845insVal
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2105_2106insTGT
  hgvsp: ENSP00000363649.1:p.Ala702_Ala703insVal
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2531_2532insTGT
  hgvsp: ENSP00000421522.5:p.Ala844_Ala845insVal
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2105_2106insTGT
  hgvsp: ENSP00000404782.2:p.Ala702_Ala703insVal
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1838_1839insTGT
  hgvsp: ENSP00000259318.7:p.Ala613_Ala614insVal
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19450
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala844_Ala845insVal
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

9-112900355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900355
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900355
    reference: chr 9
allele count: 8
allele frequency: 7.330303474563847e-5
allele num: 109136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1985C>T
  hgvsp: ENSP00000419268.1:p.Ala662Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2531C>T
  hgvsp: ENSP00000305861.7:p.Ala844Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2531C>T
  hgvsp: ENSP00000421522.5:p.Ala844Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18244C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2531C>T
  hgvsp: ENSP00000451476.1:p.Ala844Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2105C>T
  hgvsp: ENSP00000363649.1:p.Ala702Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1838C>T
  hgvsp: ENSP00000259318.7:p.Ala613Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2531C>T
  hgvsp: ENSP00000363654.3:p.Ala844Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2105C>T
  hgvsp: ENSP00000404782.2:p.Ala702Val
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19450
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28175
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala844Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

9-112900356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900356
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900356
    reference: chr 9
allele count: 25
allele frequency: 2.285233733706283e-4
allele num: 109398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2532G>A
  hgvsp: ENST00000302798.7:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2106G>A
  hgvsp: ENST00000434623.2:c.2106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2532G>A
  hgvsp: ENST00000555236.1:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1839G>A
  hgvsp: ENST00000259318.7:c.1839G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2532G>A
  hgvsp: ENST00000510514.5:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1986G>A
  hgvsp: ENST00000480388.1:c.1986G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18243G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2106G>A
  hgvsp: ENST00000374525.1:c.2106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2532G>A
  hgvsp: ENST00000374530.3:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19589
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17202
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala844Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-112900362-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900362
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900362
    reference: chr 9
allele count: 1
allele frequency: 8.708070639869031e-6
allele num: 114836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1992C>A
  hgvsp: ENSP00000419268.1:p.Phe664Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2538C>A
  hgvsp: ENSP00000363654.3:p.Phe846Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1845C>A
  hgvsp: ENSP00000259318.7:p.Phe615Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2538C>A
  hgvsp: ENSP00000421522.5:p.Phe846Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2112C>A
  hgvsp: ENSP00000363649.1:p.Phe704Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18237C>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2538C>A
  hgvsp: ENSP00000305861.7:p.Phe846Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2112C>A
  hgvsp: ENSP00000404782.2:p.Phe704Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2538C>A
  hgvsp: ENSP00000451476.1:p.Phe846Leu
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe846Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-112900363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900363
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900363
    reference: chr 9
allele count: 3
allele frequency: 2.509158428263161e-5
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2539G>A
  hgvsp: ENSP00000421522.5:p.Gly847Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.1993G>A
  hgvsp: ENSP00000419268.1:p.Gly665Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2539G>A
  hgvsp: ENSP00000305861.7:p.Gly847Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18236G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2539G>A
  hgvsp: ENSP00000363654.3:p.Gly847Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2113G>A
  hgvsp: ENSP00000363649.1:p.Gly705Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1846G>A
  hgvsp: ENSP00000259318.7:p.Gly616Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2113G>A
  hgvsp: ENSP00000404782.2:p.Gly705Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2539G>A
  hgvsp: ENSP00000451476.1:p.Gly847Ser
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly847Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-112900372-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900372
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900372
    reference: chr 9
allele count: 584
allele frequency: 4.875849516589577e-3
allele num: 119774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2002A>G
  hgvsp: ENSP00000419268.1:p.Lys668Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2122A>G
  hgvsp: ENSP00000404782.2:p.Lys708Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2548A>G
  hgvsp: ENSP00000363654.3:p.Lys850Glu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2548A>G
  hgvsp: ENSP00000305861.7:p.Lys850Glu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2548A>G
  hgvsp: ENSP00000451476.1:p.Lys850Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2548A>G
  hgvsp: ENSP00000421522.5:p.Lys850Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2122A>G
  hgvsp: ENSP00000363649.1:p.Lys708Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1855A>G
  hgvsp: ENSP00000259318.7:p.Lys619Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18227A>G
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 19738
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21717
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Lys850Glu
num of homozygotes: 14
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

9-112900376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900376
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900376
    reference: chr 9
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2552C>T
  hgvsp: ENSP00000421522.5:p.Pro851Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2126C>T
  hgvsp: ENSP00000363649.1:p.Pro709Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2126C>T
  hgvsp: ENSP00000404782.2:p.Pro709Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2552C>T
  hgvsp: ENSP00000363654.3:p.Pro851Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2552C>T
  hgvsp: ENSP00000305861.7:p.Pro851Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18223C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1859C>T
  hgvsp: ENSP00000259318.7:p.Pro620Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2006C>T
  hgvsp: ENSP00000419268.1:p.Pro669Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2552C>T
  hgvsp: ENSP00000451476.1:p.Pro851Leu
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro851Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/9-112900393-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900393
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900393
    reference: chr 9
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18206C>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2023C>A
  hgvsp: ENSP00000419268.1:p.Pro675Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2569C>A
  hgvsp: ENSP00000305861.7:p.Pro857Thr
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2569C>A
  hgvsp: ENSP00000421522.5:p.Pro857Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2143C>A
  hgvsp: ENSP00000363649.1:p.Pro715Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2569C>A
  hgvsp: ENSP00000363654.3:p.Pro857Thr
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1876C>A
  hgvsp: ENSP00000259318.7:p.Pro626Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2569C>A
  hgvsp: ENSP00000451476.1:p.Pro857Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2143C>A
  hgvsp: ENSP00000404782.2:p.Pro715Thr
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro857Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-112900393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900393
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900393
    reference: chr 9
allele count: 44
allele frequency: 3.662576789252002e-4
allele num: 120134
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2569C>T
  hgvsp: ENSP00000451476.1:p.Pro857Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2569C>T
  hgvsp: ENSP00000363654.3:p.Pro857Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2143C>T
  hgvsp: ENSP00000363649.1:p.Pro715Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2023C>T
  hgvsp: ENSP00000419268.1:p.Pro675Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2569C>T
  hgvsp: ENSP00000305861.7:p.Pro857Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1876C>T
  hgvsp: ENSP00000259318.7:p.Pro626Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2569C>T
  hgvsp: ENSP00000421522.5:p.Pro857Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2143C>T
  hgvsp: ENSP00000404782.2:p.Pro715Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18206C>T
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22715
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro857Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-112900397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900397
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900397
    reference: chr 9
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18202C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2027C>T
  hgvsp: ENSP00000419268.1:p.Pro676Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1880C>T
  hgvsp: ENSP00000259318.7:p.Pro627Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2573C>T
  hgvsp: ENSP00000305861.7:p.Pro858Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2573C>T
  hgvsp: ENSP00000451476.1:p.Pro858Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2573C>T
  hgvsp: ENSP00000421522.5:p.Pro858Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2147C>T
  hgvsp: ENSP00000363649.1:p.Pro716Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2573C>T
  hgvsp: ENSP00000363654.3:p.Pro858Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2147C>T
  hgvsp: ENSP00000404782.2:p.Pro716Leu
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40567
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro858Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

9-112900402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900402
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900402
    reference: chr 9
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2578G>A
  hgvsp: ENSP00000363654.3:p.Val860Met
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2152G>A
  hgvsp: ENSP00000404782.2:p.Val718Met
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2152G>A
  hgvsp: ENSP00000363649.1:p.Val718Met
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2032G>A
  hgvsp: ENSP00000419268.1:p.Val678Met
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18197G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2578G>A
  hgvsp: ENSP00000305861.7:p.Val860Met
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1885G>A
  hgvsp: ENSP00000259318.7:p.Val629Met
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2578G>A
  hgvsp: ENSP00000451476.1:p.Val860Met
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2578G>A
  hgvsp: ENSP00000421522.5:p.Val860Met
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val860Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

9-112900402-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900402
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900402
    reference: chr 9
allele count: 11
allele frequency: 9.146544269274263e-5
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2152G>T
  hgvsp: ENSP00000363649.1:p.Val718Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2032G>T
  hgvsp: ENSP00000419268.1:p.Val678Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2578G>T
  hgvsp: ENSP00000363654.3:p.Val860Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1885G>T
  hgvsp: ENSP00000259318.7:p.Val629Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2578G>T
  hgvsp: ENSP00000451476.1:p.Val860Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2578G>T
  hgvsp: ENSP00000305861.7:p.Val860Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18197G>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2578G>T
  hgvsp: ENSP00000421522.5:p.Val860Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2152G>T
  hgvsp: ENSP00000404782.2:p.Val718Leu
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val860Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

9-112900404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900404
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900404
    reference: chr 9
allele count: 3
allele frequency: 2.494926981803666e-5
allele num: 120244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2580G>A
  hgvsp: ENST00000302798.7:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2154G>A
  hgvsp: ENST00000434623.2:c.2154G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18195G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2580G>A
  hgvsp: ENST00000510514.5:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2034G>A
  hgvsp: ENST00000480388.1:c.2034G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2580G>A
  hgvsp: ENST00000374530.3:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2154G>A
  hgvsp: ENST00000374525.1:c.2154G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1887G>A
  hgvsp: ENST00000259318.7:c.1887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2580G>A
  hgvsp: ENST00000555236.1:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val860Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

9-112900419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900419
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900419
    reference: chr 9
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2595A>G
  hgvsp: ENST00000374530.3:c.2595A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1902A>G
  hgvsp: ENST00000259318.7:c.1902A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2049A>G
  hgvsp: ENST00000480388.1:c.2049A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18180A>G
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2595A>G
  hgvsp: ENST00000555236.1:c.2595A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2595A>G
  hgvsp: ENST00000302798.7:c.2595A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2169A>G
  hgvsp: ENST00000374525.1:c.2169A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2169A>G
  hgvsp: ENST00000434623.2:c.2169A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2595A>G
  hgvsp: ENST00000510514.5:c.2595A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln865Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

9-112900428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900428
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900428
    reference: chr 9
allele count: 1
allele frequency: 8.323206765102459e-6
allele num: 120146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2604G>A
  hgvsp: ENST00000374530.3:c.2604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2178G>A
  hgvsp: ENST00000374525.1:c.2178G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2604G>A
  hgvsp: ENST00000510514.5:c.2604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18171G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2604G>A
  hgvsp: ENST00000555236.1:c.2604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2604G>A
  hgvsp: ENST00000302798.7:c.2604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1911G>A
  hgvsp: ENST00000259318.7:c.1911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2058G>A
  hgvsp: ENST00000480388.1:c.2058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2178G>A
  hgvsp: ENST00000434623.2:c.2178G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg868Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

9-112900440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900440
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900440
    reference: chr 9
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2616A>G
  hgvsp: ENST00000302798.7:c.2616A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1923A>G
  hgvsp: ENST00000259318.7:c.1923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2190A>G
  hgvsp: ENST00000374525.1:c.2190A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2070A>G
  hgvsp: ENST00000480388.1:c.2070A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18159A>G
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2616A>G
  hgvsp: ENST00000555236.1:c.2616A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2616A>G
  hgvsp: ENST00000374530.3:c.2616A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2190A>G
  hgvsp: ENST00000434623.2:c.2190A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2616A>G
  hgvsp: ENST00000510514.5:c.2616A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro872Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

9-112900441-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900441
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900441
    reference: chr 9
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2617A>G
  hgvsp: ENSP00000363654.3:p.Lys873Glu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2071A>G
  hgvsp: ENSP00000419268.1:p.Lys691Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2191A>G
  hgvsp: ENSP00000404782.2:p.Lys731Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2617A>G
  hgvsp: ENSP00000451476.1:p.Lys873Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2617A>G
  hgvsp: ENSP00000305861.7:p.Lys873Glu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2191A>G
  hgvsp: ENSP00000363649.1:p.Lys731Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1924A>G
  hgvsp: ENSP00000259318.7:p.Lys642Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2617A>G
  hgvsp: ENSP00000421522.5:p.Lys873Glu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18158A>G
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys873Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

9-112900449-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900449
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900449
    reference: chr 9
allele count: 3
allele frequency: 2.507271086149834e-5
allele num: 119652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2625G>T
  hgvsp: ENST00000510514.5:c.2625G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18150G>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2625G>T
  hgvsp: ENST00000302798.7:c.2625G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2079G>T
  hgvsp: ENST00000480388.1:c.2079G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2625G>T
  hgvsp: ENST00000374530.3:c.2625G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2199G>T
  hgvsp: ENST00000374525.1:c.2199G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1932G>T
  hgvsp: ENST00000259318.7:c.1932G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2199G>T
  hgvsp: ENST00000434623.2:c.2199G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2625G>T
  hgvsp: ENST00000555236.1:c.2625G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu875Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

9-112900453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900453
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900453
    reference: chr 9
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2629G>A
  hgvsp: ENSP00000451476.1:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2629G>A
  hgvsp: ENSP00000363654.3:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2203G>A
  hgvsp: ENSP00000363649.1:p.Ala735Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1936G>A
  hgvsp: ENSP00000259318.7:p.Ala646Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.3G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18146G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2083G>A
  hgvsp: ENSP00000419268.1:p.Ala695Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2203G>A
  hgvsp: ENSP00000404782.2:p.Ala735Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2629G>A
  hgvsp: ENSP00000305861.7:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2629G>A
  hgvsp: ENSP00000421522.5:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala877Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/9-112900460-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900460
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900460
    reference: chr 9
allele count: 15
allele frequency: 1.255965837729214e-4
allele num: 119430
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2636A>C
  hgvsp: ENSP00000451476.1:p.Asp879Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1943A>C
  hgvsp: ENSP00000259318.7:p.Asp648Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2090A>C
  hgvsp: ENSP00000419268.1:p.Asp697Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2636A>C
  hgvsp: ENSP00000421522.5:p.Asp879Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2636A>C
  hgvsp: ENSP00000363654.3:p.Asp879Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2210A>C
  hgvsp: ENSP00000363649.1:p.Asp737Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2636A>C
  hgvsp: ENSP00000305861.7:p.Asp879Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.10A>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18139A>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2210A>C
  hgvsp: ENSP00000404782.2:p.Asp737Ala
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20755
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp879Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-112900466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900466
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900466
    reference: chr 9
allele count: 3740
allele frequency: 3.145447511395939e-2
allele num: 118902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18133C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2216C>T
  hgvsp: ENSP00000404782.2:p.Ala739Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2642C>T
  hgvsp: ENSP00000421522.5:p.Ala881Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2642C>T
  hgvsp: ENSP00000363654.3:p.Ala881Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2096C>T
  hgvsp: ENSP00000419268.1:p.Ala699Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2642C>T
  hgvsp: ENSP00000305861.7:p.Ala881Val
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2642C>T
  hgvsp: ENSP00000451476.1:p.Ala881Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1949C>T
  hgvsp: ENSP00000259318.7:p.Ala650Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2216C>T
  hgvsp: ENSP00000363649.1:p.Ala739Val
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.16C>T
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 392
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 3.25e1
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 19588
  bin: 2.75e1
  variant carriers: 659
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 1.75e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 16072
  bin: 2.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.75e1
  variant carriers: 563
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 1.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.75e1
  variant carriers: 7
hgvs: p.Ala881Val
num of homozygotes: 75
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-112900467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900467
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900467
    reference: chr 9
allele count: 983
allele frequency: 8.273018010435954e-3
allele num: 118820
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2643G>A
  hgvsp: ENST00000374530.3:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1950G>A
  hgvsp: ENST00000259318.7:c.1950G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2217G>A
  hgvsp: ENST00000374525.1:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2217G>A
  hgvsp: ENST00000434623.2:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2097G>A
  hgvsp: ENST00000480388.1:c.2097G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2643G>A
  hgvsp: ENST00000302798.7:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2643G>A
  hgvsp: ENST00000555236.1:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18132G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2643G>A
  hgvsp: ENST00000510514.5:c.2643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.17G>A
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 1.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 16267
  bin: 2.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 3.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 20218
  bin: 2.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 6
hgvs: p.Ala881Ala
num of homozygotes: 41
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-112900477-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900477
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900477
    reference: chr 9
allele count: 9
allele frequency: 7.62298414419298e-5
allele num: 118064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.27A>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2227A>C
  hgvsp: ENST00000374525.1:c.2227A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2653A>C
  hgvsp: ENST00000555236.1:c.2653A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1960A>C
  hgvsp: ENST00000259318.7:c.1960A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2653A>C
  hgvsp: ENST00000302798.7:c.2653A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2227A>C
  hgvsp: ENST00000434623.2:c.2227A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2107A>C
  hgvsp: ENST00000480388.1:c.2107A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18122A>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2653A>C
  hgvsp: ENST00000510514.5:c.2653A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2653A>C
  hgvsp: ENST00000374530.3:c.2653A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17103
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg885Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

9-112900478-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900478
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900478
    reference: chr 9
allele count: 1
allele frequency: 8.451227963423086e-6
allele num: 118326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.28G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2228G>C
  hgvsp: ENSP00000404782.2:p.Arg743Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2108G>C
  hgvsp: ENSP00000419268.1:p.Arg703Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2228G>C
  hgvsp: ENSP00000363649.1:p.Arg743Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2654G>C
  hgvsp: ENSP00000363654.3:p.Arg885Thr
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18121G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1961G>C
  hgvsp: ENSP00000259318.7:p.Arg654Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2654G>C
  hgvsp: ENSP00000451476.1:p.Arg885Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2654G>C
  hgvsp: ENSP00000421522.5:p.Arg885Thr
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2654G>C
  hgvsp: ENSP00000305861.7:p.Arg885Thr
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20087
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg885Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

9-112900482-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900482
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900483
    reference: chr 9
allele count: 1338
allele frequency: 1.220713816509744e-2
allele num: 109608
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.39dupC
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2665dupC
  hgvsp: ENSP00000451476.1:p.Gln889ProfsTer13
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2665dupC
  hgvsp: ENSP00000421522.5:p.Gln889ProfsTer13
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2665dupC
  hgvsp: ENSP00000363654.3:p.Gln889ProfsTer13
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2239dupC
  hgvsp: ENSP00000363649.1:p.Gln747ProfsTer13
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2119dupC
  hgvsp: ENSP00000419268.1:p.Gln707ProfsTer13
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18110dupC
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1972dupC
  hgvsp: ENSP00000259318.7:p.Gln658ProfsTer13
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2665dupC
  hgvsp: ENSP00000305861.7:p.Gln889ProfsTer13
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2239dupC
  hgvsp: ENSP00000404782.2:p.Gln747ProfsTer13
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 2.25e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 1.75e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.25e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 68
hgvs: p.Gln889ProfsTer13
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

9-112900482-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900482
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900482
    reference: chr 9
allele count: 52
allele frequency: 4.744179256988541e-4
allele num: 109608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2112G>C
  hgvsp: ENST00000480388.1:c.2112G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2232G>C
  hgvsp: ENST00000374525.1:c.2232G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.32G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1965G>C
  hgvsp: ENST00000259318.7:c.1965G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2658G>C
  hgvsp: ENST00000302798.7:c.2658G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2658G>C
  hgvsp: ENST00000374530.3:c.2658G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2232G>C
  hgvsp: ENST00000434623.2:c.2232G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2658G>C
  hgvsp: ENST00000510514.5:c.2658G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2658G>C
  hgvsp: ENST00000555236.1:c.2658G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18117G>C
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Gly886Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

9-112900482-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900482
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900484
    reference: chr 9
allele count: 20
allele frequency: 1.824684329610977e-4
allele num: 109608
alternate allele: GCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.38_39dupCC
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2238_2239dupCC
  hgvsp: ENSP00000363649.1:p.Gln747ProfsTer34
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1971_1972dupCC
  hgvsp: ENSP00000259318.7:p.Gln658ProfsTer34
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18111_157-18110dupCC
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2238_2239dupCC
  hgvsp: ENSP00000404782.2:p.Gln747ProfsTer34
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2664_2665dupCC
  hgvsp: ENSP00000451476.1:p.Gln889ProfsTer34
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2118_2119dupCC
  hgvsp: ENSP00000419268.1:p.Gln707ProfsTer34
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2664_2665dupCC
  hgvsp: ENSP00000421522.5:p.Gln889ProfsTer34
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2664_2665dupCC
  hgvsp: ENSP00000363654.3:p.Gln889ProfsTer34
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2664_2665dupCC
  hgvsp: ENSP00000305861.7:p.Gln889ProfsTer34
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 3
hgvs: p.Gln889ProfsTer34
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

9-112900482-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900482
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900481
    reference: chr 9
allele count: 7
allele frequency: 6.38639515363842e-5
allele num: 109608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1972delC
  hgvsp: ENSP00000259318.7:p.Gln658SerfsTer33
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2239delC
  hgvsp: ENSP00000404782.2:p.Gln747SerfsTer33
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.39delC
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2239delC
  hgvsp: ENSP00000363649.1:p.Gln747SerfsTer33
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18110delC
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2665delC
  hgvsp: ENSP00000451476.1:p.Gln889SerfsTer33
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2665delC
  hgvsp: ENSP00000305861.7:p.Gln889SerfsTer33
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2665delC
  hgvsp: ENSP00000363654.3:p.Gln889SerfsTer33
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2665delC
  hgvsp: ENSP00000421522.5:p.Gln889SerfsTer33
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2119delC
  hgvsp: ENSP00000419268.1:p.Gln707SerfsTer33
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln889SerfsTer33
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: GC
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-112900484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900484
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900484
    reference: chr 9
allele count: 1
allele frequency: 8.475581848693913e-6
allele num: 117986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18115C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2234C>T
  hgvsp: ENSP00000363649.1:p.Pro745Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2660C>T
  hgvsp: ENSP00000363654.3:p.Pro887Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2660C>T
  hgvsp: ENSP00000451476.1:p.Pro887Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1967C>T
  hgvsp: ENSP00000259318.7:p.Pro656Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.34C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2660C>T
  hgvsp: ENSP00000305861.7:p.Pro887Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2234C>T
  hgvsp: ENSP00000404782.2:p.Pro745Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2114C>T
  hgvsp: ENSP00000419268.1:p.Pro705Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2660C>T
  hgvsp: ENSP00000421522.5:p.Pro887Leu
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro887Leu
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: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-112900486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900486
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900486
    reference: chr 9
allele count: 1
allele frequency: 8.414533582403528e-6
allele num: 118842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1969C>T
  hgvsp: ENSP00000259318.7:p.Pro657Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2662C>T
  hgvsp: ENSP00000363654.3:p.Pro888Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2116C>T
  hgvsp: ENSP00000419268.1:p.Pro706Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2236C>T
  hgvsp: ENSP00000404782.2:p.Pro746Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2662C>T
  hgvsp: ENSP00000421522.5:p.Pro888Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2236C>T
  hgvsp: ENSP00000363649.1:p.Pro746Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2662C>T
  hgvsp: ENSP00000305861.7:p.Pro888Ser
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.36C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2662C>T
  hgvsp: ENSP00000451476.1:p.Pro888Ser
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18113C>T
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16437
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro888Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

9-112900491-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900491
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900491
    reference: chr 9
allele count: 1
allele frequency: 8.410711882653748e-6
allele num: 118896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2241G>C
  hgvsp: ENSP00000363649.1:p.Gln747His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.41G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2667G>C
  hgvsp: ENSP00000363654.3:p.Gln889His
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2667G>C
  hgvsp: ENSP00000451476.1:p.Gln889His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1974G>C
  hgvsp: ENSP00000259318.7:p.Gln658His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2667G>C
  hgvsp: ENSP00000421522.5:p.Gln889His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2241G>C
  hgvsp: ENSP00000404782.2:p.Gln747His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18108G>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2121G>C
  hgvsp: ENSP00000419268.1:p.Gln707His
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2667G>C
  hgvsp: ENSP00000305861.7:p.Gln889His
  variant of: http://identifiers.org/hgnc/33529
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln889His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-112900505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900505
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900505
    reference: chr 9
allele count: 1
allele frequency: 8.389684044498884e-6
allele num: 119194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2681T>C
  hgvsp: ENSP00000421522.5:p.Val894Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18094T>C
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2255T>C
  hgvsp: ENSP00000363649.1:p.Val752Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2135T>C
  hgvsp: ENSP00000419268.1:p.Val712Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.1988T>C
  hgvsp: ENSP00000259318.7:p.Val663Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2681T>C
  hgvsp: ENSP00000451476.1:p.Val894Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2681T>C
  hgvsp: ENSP00000305861.7:p.Val894Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2681T>C
  hgvsp: ENSP00000363654.3:p.Val894Ala
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2255T>C
  hgvsp: ENSP00000404782.2:p.Val752Ala
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.55T>C
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val894Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-112900520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900520
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900520
    reference: chr 9
allele count: 5
allele frequency: 4.182420450363034e-5
allele num: 119548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2270C>T
  hgvsp: ENSP00000404782.2:p.Pro757Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2270C>T
  hgvsp: ENSP00000363649.1:p.Pro757Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2696C>T
  hgvsp: ENSP00000305861.7:p.Pro899Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18079C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2696C>T
  hgvsp: ENSP00000421522.5:p.Pro899Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2696C>T
  hgvsp: ENSP00000363654.3:p.Pro899Leu
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.70C>T
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2150C>T
  hgvsp: ENSP00000419268.1:p.Pro717Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.2003C>T
  hgvsp: ENSP00000259318.7:p.Pro668Leu
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2696C>T
  hgvsp: ENSP00000451476.1:p.Pro899Leu
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7524
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro899Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

9-112900521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112900521
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 112900521
    reference: chr 9
allele count: 2
allele frequency: 1.671569938486226e-5
allele num: 119648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000363649
  ensembl transcript: ENST00000374525
  gene symbol: AKAP2
  hgvsc: ENST00000374525.1:c.2271G>A
  hgvsp: ENST00000374525.1:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000259318
  ensembl transcript: ENST00000259318
  gene symbol: AKAP2
  hgvsc: ENST00000259318.7:c.2004G>A
  hgvsp: ENST00000259318.7:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419364
  ensembl transcript: ENST00000495980
  gene symbol: AKAP2
  hgvsc: ENST00000495980.1:c.157-18078G>A
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000363654
  ensembl transcript: ENST00000374530
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000374530.3:c.2697G>A
  hgvsp: ENST00000374530.3:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000451476
  ensembl transcript: ENST00000555236
  gene symbol: AKAP2
  hgvsc: ENST00000555236.1:c.2697G>A
  hgvsp: ENST00000555236.1:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000404782
  ensembl transcript: ENST00000434623
  gene symbol: AKAP2
  hgvsc: ENST00000434623.2:c.2271G>A
  hgvsp: ENST00000434623.2:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000419268
  ensembl transcript: ENST00000480388
  gene symbol: AKAP2
  hgvsc: ENST00000480388.1:c.2151G>A
  hgvsp: ENST00000480388.1:c.2151G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000241978
  ensembl protein: ENSP00000421522
  ensembl transcript: ENST00000510514
  gene symbol: AKAP2
  hgvsc: ENST00000510514.5:c.2697G>A
  hgvsp: ENST00000510514.5:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/372
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000157654
  ensembl protein: ENSP00000305861
  ensembl transcript: ENST00000302798
  gene symbol: PALM2-AKAP2
  hgvsc: ENST00000302798.7:c.2697G>A
  hgvsp: ENST00000302798.7:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33529
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241978
  ensembl transcript: ENST00000482335
  gene symbol: AKAP2
  hgvsc: ENST00000482335.1:n.71G>A
  variant of: http://identifiers.org/hgnc/372
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro899Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3914
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

FS
type: SiteQuality
SIO_000300: 1.0936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.615e0

VQSLOD
type: SiteQuality
SIO_000300: -2.483e0

DP
type: SiteQuality
SIO_000300: 1.737949e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

QD
type: SiteQuality
SIO_000300: 3.475e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
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GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.25e1
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GenotypeQuality
all individuals: 8881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3605
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505842669557885e-5
allele num: 66408
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 6.965e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.739126e6

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 1.524e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

GenotypeQuality
all individuals: 775
bin: 7.25e1
variant carriers: 100

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 85

GenotypeQuality
all individuals: 310
bin: 9.25e1
variant carriers: 240

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 13133
bin: 6.25e1
variant carriers: 117

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 43

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 51

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2382
bin: 6.75e1
variant carriers: 144

GenotypeQuality
all individuals: 649
bin: 7.75e1
variant carriers: 188

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 32

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 18

GenotypeQuality
all individuals: 41714
bin: 9.75e1
variant carriers: 41535

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 197

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 42

Other
type: Population
allele count: 425
allele frequency: 4.680616740088105e-1
allele num: 908
num of homozygotes: 109

South Asian
type: Population
allele count: 8504
allele frequency: 5.155189136760426e-1
allele num: 16496
num of homozygotes: 2222

Latino
type: Population
allele count: 4711
allele frequency: 4.08373786407767e-1
allele num: 11536
num of homozygotes: 966

European (Finnish)
type: Population
allele count: 3072
allele frequency: 4.657368101879927e-1
allele num: 6596
num of homozygotes: 730

African
type: Population
allele count: 5915
allele frequency: 5.707255885758394e-1
allele num: 10364
num of homozygotes: 1699

East Asian
type: Population
allele count: 2799
allele frequency: 3.250871080139373e-1
allele num: 8610
num of homozygotes: 429

European (Non-Finnish)
type: Population
allele count: 31135
allele frequency: 4.681673282810057e-1
allele num: 66504
num of homozygotes: 7365

FS
type: SiteQuality
SIO_000300: 5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

QD
type: SiteQuality
SIO_000300: 1.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 2.871457e6

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
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variant carriers: 0

GenotypeQuality
all individuals: 38688
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variant carriers: 0

GenotypeQuality
all individuals: 1562
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 632
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variant carriers: 0

GenotypeQuality
all individuals: 3375
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variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

DP
type: SiteQuality
SIO_000300: 1.713682e6

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 1.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
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variant carriers: 0

GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 3332
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variant carriers: 0

GenotypeQuality
all individuals: 9888
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variant carriers: 0

GenotypeQuality
all individuals: 38442
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variant carriers: 0

GenotypeQuality
all individuals: 507
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GenotypeQuality
all individuals: 1514
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 619
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variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.629e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 1.70696e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.383e0

GenotypeQuality
all individuals: 509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9587
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variant carriers: 0

GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 556
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variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 1469
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variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 281
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GenotypeQuality
all individuals: 499
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50779530170984e-5
allele num: 66322
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.487e0

MQRankSum
type: SiteQuality
SIO_000300: -1.124e0

DP
type: SiteQuality
SIO_000300: 1.683258e6

QD
type: SiteQuality
SIO_000300: 1.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 5.472e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 239
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 37193
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variant carriers: 0

GenotypeQuality
all individuals: 2675
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variant carriers: 0

GenotypeQuality
all individuals: 207
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 9484
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GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
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variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 3.25e1
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GenotypeQuality
all individuals: 1398
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variant carriers: 1

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.673263e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 1.152e0

VQSLOD
type: SiteQuality
SIO_000300: -4.91e-2

QD
type: SiteQuality
SIO_000300: 1.83e1

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

GenotypeQuality
all individuals: 1471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
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variant carriers: 0

GenotypeQuality
all individuals: 706
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GenotypeQuality
all individuals: 783
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 329
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 1408
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GenotypeQuality
all individuals: 607
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GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 584
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GenotypeQuality
all individuals: 2623
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variant carriers: 0

GenotypeQuality
all individuals: 399
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GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

FS
type: SiteQuality
SIO_000300: 3.091e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.73e1

VQSLOD
type: SiteQuality
SIO_000300: -3.663e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 1.659964e6

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.25e1
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GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 785
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GenotypeQuality
all individuals: 831
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 3098
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GenotypeQuality
all individuals: 697
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GenotypeQuality
all individuals: 461
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GenotypeQuality
all individuals: 1386
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variant carriers: 1

GenotypeQuality
all individuals: 584
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GenotypeQuality
all individuals: 535
bin: 9.25e1
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GenotypeQuality
all individuals: 1473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.253e-1

QD
type: SiteQuality
SIO_000300: 1.73e1

FS
type: SiteQuality
SIO_000300: 3.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.659646e6

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.94325689856199e-4
allele num: 10292
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
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SIO_000300: -1.12e0

MQ
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SIO_000300: 5.857e1

ClippingRankSum
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SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 3.39e0

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11466
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.857e1

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.650785e6

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.39e0

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.48e-1

VQSLOD
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.128e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

FS
type: SiteQuality
SIO_000300: 3.352e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.613e0

DP
type: SiteQuality
SIO_000300: 1.617429e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 2.754e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517727051966974e-5
allele num: 65888
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.527650473571647e-4
allele num: 6546
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517727051966974e-5
allele num: 65888
num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

African
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Other
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East Asian
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European (Finnish)
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allele num: 6516
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65762
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Latino
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num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 90
allele frequency: 1.421935728505072e-3
allele num: 63294
num of homozygotes: 0

African
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allele count: 28
allele frequency: 2.906373261365996e-3
allele num: 9634
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.369668246445498e-3
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 44
allele frequency: 7.843137254901961e-3
allele num: 5610
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.805382027871216e-4
allele num: 8324
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.485914229319935e-4
allele num: 11146
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.556999999999999e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.035e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.16002e2

QD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
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SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 1.605075e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.826e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16354
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East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517865274278255e-5
allele num: 65882
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.578023e6

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.456e1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036375781866764e-5
allele num: 65868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10228
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

VQSLOD
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QD
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InbreedingCoeff
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FS
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SIO_000300: 2.494e0

DP
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BaseQRankSum
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SIO_000300: -2.251e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.746e1

ReadPosRankSum
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SIO_000300: 4.72e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520357588104722e-5
allele num: 65774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.216e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.179e0

DP
type: SiteQuality
SIO_000300: 1.557237e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.55913194127838e-5
allele num: 65802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 4.687e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.398e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.556694e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.271e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
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Other
type: Population
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allele num: 894
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African
type: Population
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allele frequency: 9.807767752059631e-5
allele num: 10196
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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MQ
type: SiteQuality
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
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South Asian
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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 count: 1
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allele num: 65578
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Latino
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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Other
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.864996351252737e-4
allele num: 8222
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 2.485e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.425e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 1.558109e6

GenotypeQuality
all individuals: 2381
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 28655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 21
allele frequency: 2.153404429860542e-3
allele num: 9752
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.025270758122743e-5
allele num: 11080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62742
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

DP
type: SiteQuality
SIO_000300: 1.581555e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 4.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 674
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 4139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
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variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.085940759282436e-4
allele num: 9588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.625117821042026e-4
allele num: 61534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

FS
type: SiteQuality
SIO_000300: 1.093e0

QD
type: SiteQuality
SIO_000300: 1.312e1

DP
type: SiteQuality
SIO_000300: 1.593107e6

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

GenotypeQuality
all individuals: 909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
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variant carriers: 0

GenotypeQuality
all individuals: 5743
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variant carriers: 0

GenotypeQuality
all individuals: 2112
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variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.278159213212098e-5
allele num: 10778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 1.627595e6

GenotypeQuality
all individuals: 792
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1645
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25510
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15336
bin: 9.75e1
variant carriers: 989

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1033
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 793
allele frequency: 1.215213926688734e-2
allele num: 65256
num of homozygotes: 6

Other
type: Population
allele count: 6
allele frequency: 6.741573033707865e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 2.582952513411484e-3
allele num: 10066
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 53
allele frequency: 8.161379735140129e-3
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 93
allele frequency: 5.706221622284943e-3
allele num: 16298
num of homozygotes: 3

Latino
type: Population
allele count: 34
allele frequency: 3.00672090555359e-3
allele num: 11308
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.576468e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.134e0

MQ
type: SiteQuality
SIO_000300: 5.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

GenotypeQuality
all individuals: 1218
bin: 2.75e1
variant carriers: 33

GenotypeQuality
all individuals: 1497
bin: 3.75e1
variant carriers: 41

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 22

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 60

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 13

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 24

GenotypeQuality
all individuals: 792
bin: 8.25e1
variant carriers: 62

GenotypeQuality
all individuals: 1033
bin: 5.25e1
variant carriers: 47

GenotypeQuality
all individuals: 803
bin: 4.25e1
variant carriers: 54

GenotypeQuality
all individuals: 5072
bin: 6.75e1
variant carriers: 51

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 25

GenotypeQuality
all individuals: 15336
bin: 9.75e1
variant carriers: 13542

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 56

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 75

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 54

GenotypeQuality
all individuals: 1141
bin: 4.75e1
variant carriers: 53

South Asian
type: Population
allele count: 1304
allele frequency: 8.00098171554792e-2
allele num: 16298
num of homozygotes: 51

African
type: Population
allele count: 1305
allele frequency: 1.296443473077687e-1
allele num: 10066
num of homozygotes: 87

East Asian
type: Population
allele count: 1510
allele frequency: 1.823671497584541e-1
allele num: 8280
num of homozygotes: 121

Other
type: Population
allele count: 117
allele frequency: 1.314606741573034e-1
allele num: 890
num of homozygotes: 6

Latino
type: Population
allele count: 704
allele frequency: 6.22568093385214e-2
allele num: 11308
num of homozygotes: 25

European (Finnish)
type: Population
allele count: 752
allele frequency: 1.157991992608562e-1
allele num: 6494
num of homozygotes: 39

European (Non-Finnish)
type: Population
allele count: 9270
allele frequency: 1.4205590290548e-1
allele num: 65256
num of homozygotes: 587

FS
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

DP
type: SiteQuality
SIO_000300: 1.576468e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

QD
type: SiteQuality
SIO_000300: 1.089e1

MQ
type: SiteQuality
SIO_000300: 5.186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
all individuals: 5072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
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variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 1033
bin: 5.25e1
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GenotypeQuality
all individuals: 1141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.934432743890324e-5
allele num: 10066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 1.576468e6

QD
type: SiteQuality
SIO_000300: 1.089e1

MQ
type: SiteQuality
SIO_000300: 5.186e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2737
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6991
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.75e1
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GenotypeQuality
all individuals: 2074
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.791981712678038e-5
allele num: 11374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.123e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.674e1

DP
type: SiteQuality
SIO_000300: 1.611944e6

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
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GenotypeQuality
all individuals: 31072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52077376969402e-5
allele num: 65756
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

FS
type: SiteQuality
SIO_000300: 1.369e0

VQSLOD
type: SiteQuality
SIO_000300: -5.256999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.617087e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.424e1

QD
type: SiteQuality
SIO_000300: 2.972e1

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 3.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.598e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.658e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

FS
type: SiteQuality
SIO_000300: 8.318e0

DP
type: SiteQuality
SIO_000300: 1.616889e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.112e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52077376969402e-5
allele num: 65756
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.418e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 3.787e0

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 1.618404e6

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.688846855367155e-5
allele num: 59212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

FS
type: SiteQuality
SIO_000300: 1.1739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.525e1

DP
type: SiteQuality
SIO_000300: 1.625375e6

GenotypeQuality
all individuals: 1242
bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 9.75e1
variant carriers: 8

African
type: Population
allele count: 1
allele frequency: 1.094810597766586e-4
allele num: 9134
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.270971021860702e-4
allele num: 15736
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.340482573726542e-4
allele num: 7460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.755387421468622e-5
allele num: 59212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.155e0

QD
type: SiteQuality
SIO_000300: 1.285e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.525e1

FS
type: SiteQuality
SIO_000300: 1.1739e1

DP
type: SiteQuality
SIO_000300: 1.625375e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.013941698352345e-3
allele num: 15780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.516070345664039e-4
allele num: 59364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.624326e6

FS
type: SiteQuality
SIO_000300: 1.097e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62900
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

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

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

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

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

Other
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038867110341265e-5
allele num: 65814
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.0e-1

ClippingRankSum
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DP
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 557

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

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.486750348675035e-4
allele num: 65964
num of homozygotes: 1

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

Latino
type: Population
allele count: 34
allele frequency: 2.982456140350877e-3
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 525
allele frequency: 5.19082459956496e-2
allele num: 10114
num of homozygotes: 13

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.749e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

DP
type: SiteQuality
SIO_000300: 1.608321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

QD
type: SiteQuality
SIO_000300: 1.504e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8068
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66026
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.449e1

QD
type: SiteQuality
SIO_000300: 2.571e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 1.606634e6

VQSLOD
type: SiteQuality
SIO_000300: -5.05e-1

GenotypeQuality
all individuals: 1275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.624603e6

QD
type: SiteQuality
SIO_000300: 1.229e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.946e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8155
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 492
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 9.75e1
variant carriers: 44

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

African
type: Population
allele count: 41
allele frequency: 4.069882866785785e-3
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.746114894360049e-4
allele num: 11454
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.946e0

DP
type: SiteQuality
SIO_000300: 1.624603e6

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2211
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GenotypeQuality
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GenotypeQuality
all individuals: 303
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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: 213
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GenotypeQuality
all individuals: 522
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GenotypeQuality
all individuals: 8216
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GenotypeQuality
all individuals: 1183
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variant carriers: 0

GenotypeQuality
all individuals: 2659
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variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.88e0

QD
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 2.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.624855e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.734e1

GenotypeQuality
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 434
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 252
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GenotypeQuality
all individuals: 423
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GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 1279
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GenotypeQuality
all individuals: 40872
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8242
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GenotypeQuality
all individuals: 1360
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

DP
type: SiteQuality
SIO_000300: 1.626374e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.719e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 434
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GenotypeQuality
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GenotypeQuality
all individuals: 40872
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 304
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GenotypeQuality
all individuals: 423
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1279
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.050319777965489e-5
allele num: 66296
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.482500435312555e-4
allele num: 11486
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.626374e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.719e0

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 2.423e0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
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QD
type: SiteQuality
SIO_000300: 1.469e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.734e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-2

DP
type: SiteQuality
SIO_000300: 1.625804e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 519
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 1351
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GenotypeQuality
all individuals: 1186
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 1.626279e6

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

GenotypeQuality
all individuals: 8121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.622179e6

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.058e0

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e0

GenotypeQuality
all individuals: 2563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
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: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.608757e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.547e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 9.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.445e-1

GenotypeQuality
all individuals: 2126
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
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GenotypeQuality
all individuals: 519
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variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
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variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38620
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.908e0

QD
type: SiteQuality
SIO_000300: 1.899e1

MQRankSum
type: SiteQuality
SIO_000300: -2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.334e0

DP
type: SiteQuality
SIO_000300: 1.607358e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.93e-1

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
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variant carriers: 0

GenotypeQuality
all individuals: 7749
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variant carriers: 0

GenotypeQuality
all individuals: 2537
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variant carriers: 0

GenotypeQuality
all individuals: 1258
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36172
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.537735849056604e-4
allele num: 8480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.007e0

DP
type: SiteQuality
SIO_000300: 1.591016e6

MQ
type: SiteQuality
SIO_000300: 5.657e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 2731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 7619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2086
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
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variant carriers: 0

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

GenotypeQuality
all individuals: 593
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515472979116782e-5
allele num: 65986
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.533e0

VQSLOD
type: SiteQuality
SIO_000300: -1.342e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.821e0

QD
type: SiteQuality
SIO_000300: 1.067e1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

DP
type: SiteQuality
SIO_000300: 1.581718e6

GenotypeQuality
all individuals: 32016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7494
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1050
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2070
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 585
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.276797911417382e-4
allele num: 65882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 1.755e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.556881e6

GenotypeQuality
all individuals: 28156
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 4647
bin: 9.75e1
variant carriers: 3574

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1893
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3530
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2097
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 169
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1048
bin: 8.25e1
variant carriers: 17

GenotypeQuality
all individuals: 1929
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1776
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 113
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2235
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6190
bin: 6.75e1
variant carriers: 8

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1628
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1177
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2224
bin: 3.25e1
variant carriers: 3

South Asian
type: Population
allele count: 412
allele frequency: 2.520802741067058e-2
allele num: 16344
num of homozygotes: 11

Latino
type: Population
allele count: 121
allele frequency: 1.064204045734389e-2
allele num: 11370
num of homozygotes: 2

Other
type: Population
allele count: 30
allele frequency: 3.355704697986577e-2
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

African
type: Population
allele count: 74
allele frequency: 7.552561747295366e-3
allele num: 9798
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 2885
allele frequency: 4.397865853658536e-2
allele num: 65600
num of homozygotes: 58

European (Finnish)
type: Population
allele count: 218
allele frequency: 3.352814518609658e-2
allele num: 6502
num of homozygotes: 2

FS
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.554396e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 645
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6544
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2374
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1933
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 29818
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3678
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1508
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2198
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2009
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1982
bin: 9.75e1
variant carriers: 917

GenotypeQuality
all individuals: 1080
bin: 8.25e1
variant carriers: 4

African
type: Population
allele count: 907
allele frequency: 9.241899327491339e-2
allele num: 9814
num of homozygotes: 41

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.900674788556075e-4
allele num: 65502
num of homozygotes: 0

Latino
type: Population
allele count: 52
allele frequency: 4.568617114742576e-3
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.834862385321101e-4
allele num: 16350
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.529774e6

QD
type: SiteQuality
SIO_000300: 1.393e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033698573495969e-4
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.229256299938537e-4
allele num: 65080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.413e1

FS
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.514419e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.974e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.859e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1133
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.855827134254339e-5
allele num: 11292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.306e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
SIO_000300: 2.386e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.563e0

DP
type: SiteQuality
SIO_000300: 1.514838e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.868e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 48

GenotypeQuality
all individuals: 1958
bin: 4.25e1
variant carriers: 83

GenotypeQuality
all individuals: 2546
bin: 4.75e1
variant carriers: 83

GenotypeQuality
all individuals: 848
bin: 1.25e1
variant carriers: 46

GenotypeQuality
all individuals: 2284
bin: 2.75e1
variant carriers: 68

GenotypeQuality
all individuals: 2741
bin: 3.25e1
variant carriers: 78

GenotypeQuality
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bin: 2.25e1
variant carriers: 65

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 52

GenotypeQuality
all individuals: 857
bin: 7.5e0
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GenotypeQuality
all individuals: 5339
bin: 6.75e1
variant carriers: 56

GenotypeQuality
all individuals: 23540
bin: 6.25e1
variant carriers: 62

GenotypeQuality
all individuals: 2224
bin: 5.75e1
variant carriers: 78

GenotypeQuality
all individuals: 1828
bin: 7.25e1
variant carriers: 56

GenotypeQuality
all individuals: 1492
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variant carriers: 49

GenotypeQuality
all individuals: 2813
bin: 3.75e1
variant carriers: 82

GenotypeQuality
all individuals: 1216
bin: 9.75e1
variant carriers: 398

GenotypeQuality
all individuals: 856
bin: 8.25e1
variant carriers: 48

Latino
type: Population
allele count: 30
allele frequency: 2.854967643700038e-3
allele num: 10508
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.413617886178862e-3
allele num: 7872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 129
allele frequency: 2.365236523652365e-2
allele num: 5454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 941
allele frequency: 1.559547880274454e-2
allele num: 60338
num of homozygotes: 0

African
type: Population
allele count: 198
allele frequency: 2.319587628865979e-2
allele num: 8536
num of homozygotes: 0

Other
type: Population
allele count: 19
allele frequency: 2.345679012345679e-2
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.243008079552517e-4
allele num: 16090
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.709e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 1.99479e2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

QD
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 1.516324e6

GenotypeQuality
all individuals: 2284
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2678
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5339
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1958
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variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 857
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variant carriers: 0

GenotypeQuality
all individuals: 2509
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 43

GenotypeQuality
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GenotypeQuality
all individuals: 1828
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variant carriers: 1

GenotypeQuality
all individuals: 1492
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GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 1094
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variant carriers: 1

GenotypeQuality
all individuals: 2224
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variant carriers: 1

GenotypeQuality
all individuals: 2546
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 23540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.806623524933384e-4
allele num: 10508
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.70105655686762e-4
allele num: 16090
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.971991116709205e-4
allele num: 60338
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.234567901234568e-3
allele num: 810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.833516685001834e-4
allele num: 5454
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.540650406504065e-4
allele num: 7872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.947e1

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 1.99479e2

ReadPosRankSum
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SIO_000300: -2.709e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

DP
type: SiteQuality
SIO_000300: 1.516324e6

GenotypeQuality
all individuals: 2284
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2509
bin: 2.5e0
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23540
bin: 6.25e1
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GenotypeQuality
all individuals: 1828
bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.667033370003667e-4
allele num: 5454
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.029053420805998e-4
allele num: 8536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.988796446683682e-4
allele num: 60338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 1.99479e2

ReadPosRankSum
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SIO_000300: -2.709e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
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SIO_000300: -2.182e0

VQSLOD
type: SiteQuality
SIO_000300: -3.947e1

QD
type: SiteQuality
SIO_000300: 2.43e0

GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.971991116709205e-5
allele num: 60338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.903311762466692e-4
allele num: 10508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.215040397762585e-5
allele num: 16090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.99479e2

VQSLOD
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QD
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DP
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ClippingRankSum
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MQ
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 572
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GenotypeQuality
all individuals: 481
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65036
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.65e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1508
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 277
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526624328285296e-5
allele num: 65504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 1.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 7.37e0

DP
type: SiteQuality
SIO_000300: 1.54406e6

VQSLOD
type: SiteQuality
SIO_000300: -6.754e-1

GenotypeQuality
all individuals: 7069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.907e0

DP
type: SiteQuality
SIO_000300: 1.544789e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

FS
type: SiteQuality
SIO_000300: 5.481e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

GenotypeQuality
all individuals: 1449
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 2.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01276078590237e-4
allele num: 9874
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.98e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

DP
type: SiteQuality
SIO_000300: 1.563768e6

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1528
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 36868
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.040252949045361e-5
allele num: 65784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

QD
type: SiteQuality
SIO_000300: 1.629e1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.587951e6