12-15699594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699594
    reference: chr 12
allele count: 146
allele frequency: 1.211598147748585e-3
allele num: 120502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.43T>C
  hgvsp: ENST00000535311.1:c.43T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-178T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2256T>C
  hgvsp: ENST00000281171.4:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-178T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-178T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2256T>C
  hgvsp: ENST00000348962.2:c.2256T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-178T>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38025
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 5612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 9.75e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe752Phe
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-15699602-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699602
    reference: chr 12
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2264T>G
  hgvsp: ENSP00000281171.4:p.Phe755Cys
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-170T>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-170T>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2264T>G
  hgvsp: ENSP00000343434.2:p.Phe755Cys
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-170T>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-170T>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.51T>G
  hgvsp: ENSP00000445621.1:p.Phe18Cys
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe755Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-15699610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699610
    reference: chr 12
allele count: 2
allele frequency: 1.654204989082247e-5
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-162C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-162C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.59C>G
  hgvsp: ENSP00000445621.1:p.Gln21Glu
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-162C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2272C>G
  hgvsp: ENSP00000343434.2:p.Gln758Glu
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-162C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2272C>G
  hgvsp: ENSP00000281171.4:p.Gln758Glu
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40801
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln758Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-15699612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699612
    reference: chr 12
allele count: 13
allele frequency: 1.074984288691165e-4
allele num: 120932
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2274A>G
  hgvsp: ENST00000281171.4:c.2274A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2274A>G
  hgvsp: ENST00000348962.2:c.2274A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-160A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-160A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.61A>G
  hgvsp: ENST00000535311.1:c.61A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-160A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-160A>G
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln758Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-15699614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699614
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699614
    reference: chr 12
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-158T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-158T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-158T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2276T>C
  hgvsp: ENSP00000343434.2:p.Val759Ala
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.63T>C
  hgvsp: ENSP00000445621.1:p.Val22Ala
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2276T>C
  hgvsp: ENSP00000281171.4:p.Val759Ala
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-158T>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val759Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

12-15699617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699617
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699617
    reference: chr 12
allele count: 6
allele frequency: 4.959251483642736e-5
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-155G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2279G>A
  hgvsp: ENSP00000343434.2:p.Gly760Asp
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-155G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-155G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-155G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2279G>A
  hgvsp: ENSP00000281171.4:p.Gly760Asp
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.66G>A
  hgvsp: ENSP00000445621.1:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Gly760Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-15699622-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699622
    reference: chr 12
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-150A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-150A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-150A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2284A>G
  hgvsp: ENSP00000281171.4:p.Ser762Gly
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-150A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2284A>G
  hgvsp: ENSP00000343434.2:p.Ser762Gly
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.71A>G
  hgvsp: ENSP00000445621.1:p.Ser25Gly
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser762Gly
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-15699637-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699637
    reference: chr 12
allele count: 15
allele frequency: 1.239095955590801e-4
allele num: 121056
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2299C>G
  hgvsp: ENSP00000281171.4:p.Leu767Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-135C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-135C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2299C>G
  hgvsp: ENSP00000343434.2:p.Leu767Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-135C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-135C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.86C>G
  hgvsp: ENSP00000445621.1:p.Leu30Val
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10765
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6730
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5696
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu767Val
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-15699647-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699647
    reference: chr 12
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+5T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+5T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+5T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+5T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+5T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+5T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+5T>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2304+5T>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-15699659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699659
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699659
    reference: chr 12
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+17T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+17T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+17T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+17T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+17T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+17T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+17T>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

12-15699661-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699661
    reference: chr 12
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+19T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+19T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+19T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+19T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+19T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+19T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+19T>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-15699664-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699664
    reference: chr 12
allele count: 2
allele frequency: 1.653193142554845e-5
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+22C>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+22C>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+22C>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+22C>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+22C>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+22C>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+22C>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-15699664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699664
    reference: chr 12
allele count: 10
allele frequency: 8.265965712774223e-5
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+22C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+22C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+22C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+22C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+22C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+22C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+22C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

12-15699665-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699665
    reference: chr 12
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+23T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+23T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+23T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+23T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+23T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+23T>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+23T>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-15699673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699673
    reference: chr 12
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+31G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+31G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+31G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+31G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+31G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+31G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+31G>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

12-15699686-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699686
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699686
    reference: chr 12
allele count: 87
allele frequency: 7.198530506875838e-4
allele num: 120858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+44A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+44A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+44A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+44A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+44A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+44A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+44A>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 35085
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 9.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS

12-15699688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15699688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15699688
    reference: chr 12
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-130+46G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2304+46G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-130+46G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-130+46G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.91+46G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2304+46G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-130+46G>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

12-15701977-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15701977
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15701977
    reference: chr 12
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2305-51A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-129-51A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-129-51A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-129-51A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2305-51A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.92-51A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-129-51A>G
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

12-15701993-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15701993
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15701993
    reference: chr 12
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2305-35T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2305-35T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.92-35T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-129-35T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-129-35T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-129-35T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-129-35T>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-15702002-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702002
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702002
    reference: chr 12
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2305-26A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-129-26A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-129-26A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-129-26A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2305-26A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.92-26A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-129-26A>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-15702007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702007
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702007
    reference: chr 12
allele count: 37126
allele frequency: 3.060171447411804e-1
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-129-21C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.92-21C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-129-21C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-129-21C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2305-21C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-129-21C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2305-21C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 4.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 990
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 644
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 3.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25837
  bin: 9.75e1
  variant carriers: 25539
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 4.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 8.25e1
  variant carriers: 780
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.75e1
  variant carriers: 876
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 32281
  bin: 9.75e1
  variant carriers: 31222
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 5834
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-15702011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702011
    reference: chr 12
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-129-17A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-129-17A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.92-17A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2305-17A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-129-17A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-129-17A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2305-17A>G
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-15702023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702023
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702023
    reference: chr 12
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-129-5C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-129-5C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-129-5C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.92-5C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2305-5C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2305-5C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-129-5C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13894
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2305-5C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-15702033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702033
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702033
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2310A>G
  hgvsp: ENST00000281171.4:c.2310A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-124A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.97A>G
  hgvsp: ENST00000535311.1:c.97A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2310A>G
  hgvsp: ENST00000348962.2:c.2310A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-124A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-124A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-124A>G
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro770Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-15702047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702047
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702047
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2324C>T
  hgvsp: ENSP00000281171.4:p.Ser775Phe
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-110C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2324C>T
  hgvsp: ENSP00000343434.2:p.Ser775Phe
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.111C>T
  hgvsp: ENSP00000445621.1:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-110C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-110C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-110C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser775Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-15702054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702054
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702054
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-103C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-103C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2331C>T
  hgvsp: ENST00000348962.2:c.2331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-103C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.118C>T
  hgvsp: ENST00000535311.1:c.118C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2331C>T
  hgvsp: ENST00000281171.4:c.2331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-103C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val777Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-15702055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702055
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702055
    reference: chr 12
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.119G>A
  hgvsp: ENSP00000445621.1:p.Val41Met
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-102G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-102G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-102G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-102G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2332G>A
  hgvsp: ENSP00000343434.2:p.Val778Met
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2332G>A
  hgvsp: ENSP00000281171.4:p.Val778Met
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val778Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

12-15702061-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702061
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702061
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-96A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2338A>G
  hgvsp: ENSP00000281171.4:p.Ile780Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-96A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.125A>G
  hgvsp: ENSP00000445621.1:p.Ile43Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-96A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-96A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2338A>G
  hgvsp: ENSP00000343434.2:p.Ile780Val
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile780Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-15702068-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702068
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.132G>C
  hgvsp: ENSP00000445621.1:p.Ser45Thr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-89G>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-89G>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2345G>C
  hgvsp: ENSP00000343434.2:p.Ser782Thr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2345G>C
  hgvsp: ENSP00000281171.4:p.Ser782Thr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-89G>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser782Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-15702073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702073
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702073
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.137C>T
  hgvsp: ENSP00000445621.1:p.Leu47Phe
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-84C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-84C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2350C>T
  hgvsp: ENSP00000281171.4:p.Leu784Phe
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2350C>T
  hgvsp: ENSP00000343434.2:p.Leu784Phe
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu784Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

12-15702086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702086
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702086
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.150C>T
  hgvsp: ENSP00000445621.1:p.Ala51Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-71C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-71C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-71C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2363C>T
  hgvsp: ENSP00000343434.2:p.Ala788Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2363C>T
  hgvsp: ENSP00000281171.4:p.Ala788Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-71C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala788Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-15702093-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702093
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702093
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2370T>C
  hgvsp: ENST00000348962.2:c.2370T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-64T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.157T>C
  hgvsp: ENST00000535311.1:c.157T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2370T>C
  hgvsp: ENST00000281171.4:c.2370T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-64T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-64T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-64T>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn790Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-15702095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702095
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.159G>A
  hgvsp: ENSP00000445621.1:p.Cys54Tyr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2372G>A
  hgvsp: ENSP00000281171.4:p.Cys791Tyr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2372G>A
  hgvsp: ENSP00000343434.2:p.Cys791Tyr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-62G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-62G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-62G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-62G>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32378
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys791Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

12-15702099-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702099
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.163T>C
  hgvsp: ENST00000535311.1:c.163T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-58T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2376T>C
  hgvsp: ENST00000281171.4:c.2376T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-58T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-58T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-58T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2376T>C
  hgvsp: ENST00000348962.2:c.2376T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser792Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

12-15702102-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702102
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702102
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-55C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-55C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.166C>G
  hgvsp: ENST00000535311.1:c.166C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2379C>G
  hgvsp: ENST00000281171.4:c.2379C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2379C>G
  hgvsp: ENST00000348962.2:c.2379C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val793Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-15702102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702102
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702102
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2379C>T
  hgvsp: ENST00000348962.2:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2379C>T
  hgvsp: ENST00000281171.4:c.2379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-55C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-55C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.166C>T
  hgvsp: ENST00000535311.1:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-55C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-55C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val793Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

12-15702107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702107
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702107
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2384G>C
  hgvsp: ENSP00000281171.4:p.Ser795Thr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.171G>C
  hgvsp: ENSP00000445621.1:p.Ser58Thr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2384G>C
  hgvsp: ENSP00000343434.2:p.Ser795Thr
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-50G>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-50G>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14776
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser795Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-15702117-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702117
    reference: chr 12
allele count: 6
allele frequency: 4.943316635908252e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2394T>C
  hgvsp: ENST00000281171.4:c.2394T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2394T>C
  hgvsp: ENST00000348962.2:c.2394T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-40T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-40T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.181T>C
  hgvsp: ENST00000535311.1:c.181T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His798His
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

12-15702119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702119
    reference: chr 12
allele count: 7
allele frequency: 5.76710771309463e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-38A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-38A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-38A>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2396A>G
  hgvsp: ENSP00000281171.4:p.Asp799Gly
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2396A>G
  hgvsp: ENSP00000343434.2:p.Asp799Gly
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.183A>G
  hgvsp: ENSP00000445621.1:p.Asp62Gly
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp799Gly
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: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-15702119-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702119
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2396A>T
  hgvsp: ENSP00000343434.2:p.Asp799Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2396A>T
  hgvsp: ENSP00000281171.4:p.Asp799Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-38A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-38A>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.183A>T
  hgvsp: ENSP00000445621.1:p.Asp62Val
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-38A>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp799Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-15702120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702120
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-37C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2397C>T
  hgvsp: ENST00000348962.2:c.2397C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2397C>T
  hgvsp: ENST00000281171.4:c.2397C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-37C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.184C>T
  hgvsp: ENST00000535311.1:c.184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp799Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-15702129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702129
    reference: chr 12
allele count: 91
allele frequency: 7.497363564460849e-4
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2406T>C
  hgvsp: ENST00000348962.2:c.2406T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2406T>C
  hgvsp: ENST00000281171.4:c.2406T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-28T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.193T>C
  hgvsp: ENST00000535311.1:c.193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-28T>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser802Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-15702137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702137
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702137
    reference: chr 12
allele count: 9
allele frequency: 7.416930379746836e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2414C>T
  hgvsp: ENSP00000343434.2:p.Thr805Met
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-20C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2414C>T
  hgvsp: ENSP00000281171.4:p.Thr805Met
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.201C>T
  hgvsp: ENSP00000445621.1:p.Thr68Met
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-20C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr805Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

12-15702138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702138
    reference: chr 12
allele count: 29
allele frequency: 2.390017966341954e-4
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2415G>A
  hgvsp: ENST00000281171.4:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.202G>A
  hgvsp: ENST00000535311.1:c.202G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2415G>A
  hgvsp: ENST00000348962.2:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 14782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr805Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-15702144-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702144
    reference: chr 12
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-13A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2421A>C
  hgvsp: ENST00000348962.2:c.2421A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.208A>C
  hgvsp: ENST00000535311.1:c.208A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-13A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2421A>C
  hgvsp: ENST00000281171.4:c.2421A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-13A>C
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-13A>C
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile807Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-15702147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702147
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702147
    reference: chr 12
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2424C>T
  hgvsp: ENST00000348962.2:c.2424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2424C>T
  hgvsp: ENST00000281171.4:c.2424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.211C>T
  hgvsp: ENST00000535311.1:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala808Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-15702148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702148
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702148
    reference: chr 12
allele count: 3
allele frequency: 2.473329266080762e-5
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-9G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2425G>A
  hgvsp: ENSP00000281171.4:p.Val809Ile
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-9G>A
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.212G>A
  hgvsp: ENSP00000445621.1:p.Val72Ile
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2425G>A
  hgvsp: ENSP00000343434.2:p.Val809Ile
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val809Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

12-15702150-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15702150
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 15702150
    reference: chr 12
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000404188
  ensembl transcript: ENST00000442921
  gene symbol: PTPRO
  hgvsc: ENST00000442921.2:c.-7C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000393449
  ensembl transcript: ENST00000445537
  gene symbol: PTPRO
  hgvsc: ENST00000445537.2:c.-7C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000437571
  ensembl transcript: ENST00000542557
  gene symbol: PTPRO
  hgvsc: ENST00000542557.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000445621
  ensembl transcript: ENST00000535311
  gene symbol: PTPRO
  hgvsc: ENST00000535311.1:c.214C>G
  hgvsp: ENST00000535311.1:c.214C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000343434
  ensembl transcript: ENST00000348962
  gene symbol: PTPRO
  hgvsc: ENST00000348962.2:c.2427C>G
  hgvsp: ENST00000348962.2:c.2427C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000281171
  ensembl transcript: ENST00000281171
  gene symbol: PTPRO
  hgvsc: ENST00000281171.4:c.2427C>G
  hgvsp: ENST00000281171.4:c.2427C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9678
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000151490
  ensembl protein: ENSP00000439234
  ensembl transcript: ENST00000544244
  gene symbol: PTPRO
  hgvsc: ENST00000544244.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/9678
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val809Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

14-23235912-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235912
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235912
    reference: chr 14
allele count: 5
allele frequency: 4.122691292875989e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.29T>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.16T>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.14T>A
  hgvsp: ENSP00000389240.1:p.Met5Lys
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.2T>A
  hgvsp: ENSP00000474623.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-542T>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.182T>A
  hgvsp: ENSP00000285848.5:p.Met61Lys
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.1T>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.16T>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.2T>A
  hgvsp: ENSP00000387601.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8526
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

14-23235915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235915
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235915
    reference: chr 14
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.5C>T
  hgvsp: ENSP00000474623.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.4C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.32C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-539C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.5C>T
  hgvsp: ENSP00000387601.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.19C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.185C>T
  hgvsp: ENSP00000285848.5:p.Ala62Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.17C>T
  hgvsp: ENSP00000389240.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.19C>T
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala62Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-23235916-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235916
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235916
    reference: chr 14
allele count: 6
allele frequency: 4.948535233570863e-5
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.20G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.6G>T
  hgvsp: ENST00000604262.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.20G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.5G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.6G>T
  hgvsp: ENST00000412791.1:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-538G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.186G>T
  hgvsp: ENST00000285848.5:c.186G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.18G>T
  hgvsp: ENST00000442110.1:c.18G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.33G>T
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala62Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

14-23235917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235917
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235917
    reference: chr 14
allele count: 8
allele frequency: 6.59870005608895e-5
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.19A>G
  hgvsp: ENSP00000389240.1:p.Met7Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-537A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.6A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.21A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.7A>G
  hgvsp: ENSP00000387601.1:p.Met3Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.187A>G
  hgvsp: ENSP00000285848.5:p.Met63Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.7A>G
  hgvsp: ENSP00000474623.1:p.Met3Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.21A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.34A>G
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35503
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met63Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

14-23235917-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235917
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235917
    reference: chr 14
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.21A>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-537A>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.7A>T
  hgvsp: ENSP00000474623.1:p.Met3Leu
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.21A>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.19A>T
  hgvsp: ENSP00000389240.1:p.Met7Leu
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.7A>T
  hgvsp: ENSP00000387601.1:p.Met3Leu
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.34A>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.187A>T
  hgvsp: ENSP00000285848.5:p.Met63Leu
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.6A>T
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met63Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

14-23235925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235925
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235925
    reference: chr 14
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.29A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.15A>G
  hgvsp: ENST00000604262.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.42A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.15A>G
  hgvsp: ENST00000412791.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.27A>G
  hgvsp: ENST00000442110.1:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-529A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.29A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.195A>G
  hgvsp: ENST00000285848.5:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.14A>G
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu65Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

14-23235926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235926
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235926
    reference: chr 14
allele count: 32
allele frequency: 2.641310089804543e-4
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-528A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.15A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.43A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.30A>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.16A>G
  hgvsp: ENSP00000474623.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.28A>G
  hgvsp: ENSP00000389240.1:p.Met10Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.196A>G
  hgvsp: ENSP00000285848.5:p.Met66Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.16A>G
  hgvsp: ENSP00000387601.1:p.Met6Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.30A>G
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met66Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-23235927-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235927
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235927
    reference: chr 14
allele count: 4
allele frequency: 3.301964668978042e-5
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.197T>C
  hgvsp: ENSP00000285848.5:p.Met66Thr
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.16T>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.29T>C
  hgvsp: ENSP00000389240.1:p.Met10Thr
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.17T>C
  hgvsp: ENSP00000387601.1:p.Met6Thr
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.31T>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.17T>C
  hgvsp: ENSP00000474623.1:p.Met6Thr
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-527T>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.44T>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.31T>C
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35485
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met66Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

14-23235928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235928
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235928
    reference: chr 14
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.198G>A
  hgvsp: ENSP00000285848.5:p.Met66Ile
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.45G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-526G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-318G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.32G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.18G>A
  hgvsp: ENSP00000474623.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.17G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.32G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.30G>A
  hgvsp: ENSP00000389240.1:p.Met10Ile
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.18G>A
  hgvsp: ENSP00000387601.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met66Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

14-23235928-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235928
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235928
    reference: chr 14
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-526G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.32G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-318G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.18G>T
  hgvsp: ENSP00000474623.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.32G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.198G>T
  hgvsp: ENSP00000285848.5:p.Met66Ile
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.30G>T
  hgvsp: ENSP00000389240.1:p.Met10Ile
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.17G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.18G>T
  hgvsp: ENSP00000387601.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.45G>T
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met66Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

14-23235930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235930
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235930
    reference: chr 14
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.200G>C
  hgvsp: ENSP00000285848.5:p.Cys67Ser
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-316G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.20G>C
  hgvsp: ENSP00000387601.1:p.Cys7Ser
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.47G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.20G>C
  hgvsp: ENSP00000474623.1:p.Cys7Ser
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.32G>C
  hgvsp: ENSP00000389240.1:p.Cys11Ser
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-524G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.34G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.19G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.34G>C
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys67Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-23235931-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235931
    reference: chr 14
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.20C>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.201C>A
  hgvsp: ENSP00000285848.5:p.Cys67Ter
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.35C>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.21C>A
  hgvsp: ENSP00000474623.1:p.Cys7Ter
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-315C>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.33C>A
  hgvsp: ENSP00000389240.1:p.Cys11Ter
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.21C>A
  hgvsp: ENSP00000387601.1:p.Cys7Ter
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-523C>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.35C>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.48C>A
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys67Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

14-23235931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235931
    reference: chr 14
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.35C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.33C>G
  hgvsp: ENSP00000389240.1:p.Cys11Trp
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.21C>G
  hgvsp: ENSP00000387601.1:p.Cys7Trp
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.21C>G
  hgvsp: ENSP00000474623.1:p.Cys7Trp
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.35C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-315C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-523C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.48C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.201C>G
  hgvsp: ENSP00000285848.5:p.Cys67Trp
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.20C>G
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys67Trp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

14-23235931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235931
    reference: chr 14
allele count: 8
allele frequency: 6.606983581645799e-5
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-523C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.21C>T
  hgvsp: ENST00000412791.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.35C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.21C>T
  hgvsp: ENST00000604262.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.33C>T
  hgvsp: ENST00000442110.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.201C>T
  hgvsp: ENST00000285848.5:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.20C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-315C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.48C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.35C>T
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys67Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-23235932-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235932
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235932
    reference: chr 14
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-314G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.34G>C
  hgvsp: ENSP00000389240.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.22G>C
  hgvsp: ENSP00000474623.1:p.Gly8Arg
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.202G>C
  hgvsp: ENSP00000285848.5:p.Gly68Arg
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.36G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.22G>C
  hgvsp: ENSP00000387601.1:p.Gly8Arg
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.49G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.21G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-522G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.36G>C
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly68Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-23235933-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235933
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235933
    reference: chr 14
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-521G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.23G>T
  hgvsp: ENSP00000387601.1:p.Gly8Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.35G>T
  hgvsp: ENSP00000389240.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.22G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.23G>T
  hgvsp: ENSP00000474623.1:p.Gly8Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.203G>T
  hgvsp: ENSP00000285848.5:p.Gly68Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.37G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.37G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.50G>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-313G>T
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly68Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

14-23235935-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235935
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235935
    reference: chr 14
allele count: 2
allele frequency: 1.652482855490374e-5
allele num: 121030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.52C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.205C>G
  hgvsp: ENSP00000285848.5:p.Arg69Gly
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.39C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.25C>G
  hgvsp: ENSP00000474623.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.25C>G
  hgvsp: ENSP00000387601.1:p.Arg9Gly
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.24C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-519C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.39C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-311C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.37C>G
  hgvsp: ENSP00000389240.1:p.Arg13Gly
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35473
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg69Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-23235935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235935
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235935
    reference: chr 14
allele count: 2
allele frequency: 1.652482855490374e-5
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.205C>T
  hgvsp: ENSP00000285848.5:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-519C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-311C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.25C>T
  hgvsp: ENSP00000474623.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.37C>T
  hgvsp: ENSP00000389240.1:p.Arg13Cys
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.25C>T
  hgvsp: ENSP00000387601.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.24C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.52C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.39C>T
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.39C>T
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg69Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

14-23235936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235936
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235936
    reference: chr 14
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.206G>A
  hgvsp: ENSP00000285848.5:p.Arg69His
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.38G>A
  hgvsp: ENSP00000389240.1:p.Arg13His
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.26G>A
  hgvsp: ENSP00000474623.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-518G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.25G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.26G>A
  hgvsp: ENSP00000387601.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.40G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.40G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.53G>A
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-310G>A
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg69His
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

14-23235936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235936
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235936
    reference: chr 14
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.40G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.40G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.53G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.26G>C
  hgvsp: ENSP00000474623.1:p.Arg9Pro
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-518G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.26G>C
  hgvsp: ENSP00000387601.1:p.Arg9Pro
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.25G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-310G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.206G>C
  hgvsp: ENSP00000285848.5:p.Arg69Pro
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.38G>C
  hgvsp: ENSP00000389240.1:p.Arg13Pro
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg69Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

14-23235937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235937
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235937
    reference: chr 14
allele count: 2
allele frequency: 1.652865241896828e-5
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.26C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.207C>G
  hgvsp: ENST00000285848.5:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.39C>G
  hgvsp: ENST00000442110.1:c.39C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.41C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-517C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-309C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.41C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.54C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.27C>G
  hgvsp: ENST00000412791.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.27C>G
  hgvsp: ENST00000604262.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg69Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

14-23235939-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235939
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235939
    reference: chr 14
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.41G>C
  hgvsp: ENSP00000389240.1:p.Arg14Pro
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.43G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-307G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.29G>C
  hgvsp: ENSP00000387601.1:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.29G>C
  hgvsp: ENSP00000474623.1:p.Arg10Pro
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.28G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.43G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.209G>C
  hgvsp: ENSP00000285848.5:p.Arg70Pro
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-515G>C
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.56G>C
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10061
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg70Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

14-23235944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23235944
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 23235944
    reference: chr 14
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000389240
  ensembl transcript: ENST00000442110
  gene symbol: OXA1L
  hgvsc: ENST00000442110.1:c.46C>G
  hgvsp: ENSP00000389240.1:p.Leu16Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000285848
  ensembl transcript: ENST00000285848
  gene symbol: OXA1L
  hgvsc: ENST00000285848.5:c.214C>G
  hgvsp: ENSP00000285848.5:p.Leu72Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000557299
  gene symbol: OXA1L
  hgvsc: ENST00000557299.1:n.48C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000350740
  ensembl transcript: ENST00000358043
  gene symbol: OXA1L
  hgvsc: ENST00000358043.5:c.-302C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000474623
  ensembl transcript: ENST00000604262
  gene symbol: OXA1L
  hgvsc: ENST00000604262.1:c.34C>G
  hgvsp: ENSP00000474623.1:p.Leu12Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000483939
  gene symbol: OXA1L
  hgvsc: ENST00000483939.2:n.61C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000387601
  ensembl transcript: ENST00000412791
  gene symbol: OXA1L
  hgvsc: ENST00000412791.1:c.34C>G
  hgvsp: ENSP00000387601.1:p.Leu12Val
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000495424
  gene symbol: OXA1L
  hgvsc: ENST00000495424.1:n.33C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000155463
  ensembl protein: ENSP00000396596
  ensembl transcript: ENST00000431881
  gene symbol: OXA1L
  hgvsc: ENST00000431881.2:c.-510C>G
  variant of: http://identifiers.org/hgnc/8526
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000155463
  ensembl transcript: ENST00000473744
  gene symbol: OXA1L
  hgvsc: ENST00000473744.1:n.48C>G
  variant of: http://identifiers.org/hgnc/8526
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu72Val
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40421
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 141
allele frequency: 1.359691417550627e-2
allele num: 10370
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
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: 5
allele frequency: 4.356159609688099e-4
allele num: 11478
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

QD
type: SiteQuality
SIO_000300: 1.392e1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

DP
type: SiteQuality
SIO_000300: 1.650723e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40741
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 3.726e0

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

DP
type: SiteQuality
SIO_000300: 1.649434e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 5.01e0

GenotypeQuality
all individuals: 2011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5677
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6714
bin: 9.75e1
variant carriers: 2

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.651635e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 2266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.638568829593693e-4
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.345558838866678e-4
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
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: 6580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 2.453e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

DP
type: SiteQuality
SIO_000300: 1.652861e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5675
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.65248e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 1.433e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 1.391e0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40818
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5681
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423948612289419e-4
allele num: 16502
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005710850616171e-5
allele num: 66540
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.489e0

DP
type: SiteQuality
SIO_000300: 1.65347e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6717
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.112e1

VQSLOD
type: SiteQuality
SIO_000300: -4.525e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.65371e6

FS
type: SiteQuality
SIO_000300: 8.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 735
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.252658136601189e-4
allele num: 66588
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 1.654308e6

QD
type: SiteQuality
SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

GenotypeQuality
all individuals: 40662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5698
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2002
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 5.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.653233e6

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 6721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40247
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
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: 10396
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

DP
type: SiteQuality
SIO_000300: 1.650572e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

QD
type: SiteQuality
SIO_000300: 1.437e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
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variant carriers: 0

GenotypeQuality
all individuals: 6721
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
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: 0
allele frequency: 0.0e0
allele num: 66552
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: 8558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 3.018e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -4.892e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.650776e6

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 1464
bin: 8.25e1
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GenotypeQuality
all individuals: 40133
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.650679e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 1.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e0

GenotypeQuality
all individuals: 1979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 610
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GenotypeQuality
all individuals: 343
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GenotypeQuality
all individuals: 54
bin: 4.75e1
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 1464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6732
bin: 9.75e1
variant carriers: 10

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.213960546282246e-3
allele num: 6590
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 1.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.650679e6

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

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

GenotypeQuality
all individuals: 1463
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variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2253
bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6728
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.649271e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.424e0

QD
type: SiteQuality
SIO_000300: 1.114e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

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

GenotypeQuality
all individuals: 1463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 735
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variant carriers: 0

GenotypeQuality
all individuals: 505
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GenotypeQuality
all individuals: 491
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 2245
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variant carriers: 0

GenotypeQuality
all individuals: 6729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 607
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

QD
type: SiteQuality
SIO_000300: 1.759e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.36e-2

DP
type: SiteQuality
SIO_000300: 1.642158e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 5.391e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2239
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GenotypeQuality
all individuals: 39
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1234
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GenotypeQuality
all individuals: 859
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

South Asian
type: Population
allele count: 61
allele frequency: 3.701456310679611e-3
allele num: 16480
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.308569194213012e-4
allele num: 66494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

DP
type: SiteQuality
SIO_000300: 1.633901e6

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.436e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
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
all individuals: 1949
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
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: 16478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 4.317e0

DP
type: SiteQuality
SIO_000300: 1.633323e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

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

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 366
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GenotypeQuality
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GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 2071
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GenotypeQuality
all individuals: 570
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GenotypeQuality
all individuals: 390
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GenotypeQuality
all individuals: 15468
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GenotypeQuality
all individuals: 1509
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
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: 6596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.216e0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.464e0

QD
type: SiteQuality
SIO_000300: 1.731e1

DP
type: SiteQuality
SIO_000300: 3.184369e6

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2160
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1575
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GenotypeQuality
all individuals: 2512
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.267e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.203199e6

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

FS
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27877
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7961
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.416e0

VQSLOD
type: SiteQuality
SIO_000300: 8.68e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 3.205399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.151e1

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e0

GenotypeQuality
all individuals: 15724
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1905
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 20200
allele frequency: 3.02757793764988e-1
allele num: 66720
num of homozygotes: 3132

East Asian
type: Population
allele count: 2511
allele frequency: 2.909617612977984e-1
allele num: 8630
num of homozygotes: 374

African
type: Population
allele count: 3361
allele frequency: 3.23795761078998e-1
allele num: 10380
num of homozygotes: 534

Latino
type: Population
allele count: 2837
allele frequency: 2.454152249134948e-1
allele num: 11560
num of homozygotes: 367

European (Finnish)
type: Population
allele count: 2163
allele frequency: 3.271324863883848e-1
allele num: 6612
num of homozygotes: 348

Other
type: Population
allele count: 310
allele frequency: 3.414096916299559e-1
allele num: 908
num of homozygotes: 55

South Asian
type: Population
allele count: 5744
allele frequency: 3.479103573591762e-1
allele num: 16510
num of homozygotes: 1024

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

DP
type: SiteQuality
SIO_000300: 5.434736e6

QD
type: SiteQuality
SIO_000300: 1.641e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14748
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 694
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 32316
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.56e0

FS
type: SiteQuality
SIO_000300: 4.072e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.596e0

QD
type: SiteQuality
SIO_000300: 1.933e1

DP
type: SiteQuality
SIO_000300: 2.410518e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 32357
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variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.411313e6

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 14757
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3964
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 837
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variant carriers: 0

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

GenotypeQuality
all individuals: 32363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 9.75e1
variant carriers: 1

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e0

VQSLOD
type: SiteQuality
SIO_000300: -2.738e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.967e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

DP
type: SiteQuality
SIO_000300: 2.411096e6

FS
type: SiteQuality
SIO_000300: 1.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 694
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
all individuals: 1996
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variant carriers: 0

GenotypeQuality
all individuals: 14763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
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variant carriers: 0

GenotypeQuality
all individuals: 2204
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variant carriers: 1

GenotypeQuality
all individuals: 32369
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.937e0

QD
type: SiteQuality
SIO_000300: 1.411e1

FS
type: SiteQuality
SIO_000300: 1.472e0

DP
type: SiteQuality
SIO_000300: 2.411093e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.992e1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 694
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2203
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variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.410923e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.891e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

QD
type: SiteQuality
SIO_000300: 1.199e1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
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variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

DP
type: SiteQuality
SIO_000300: 2.410973e6

FS
type: SiteQuality
SIO_000300: 1.848e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14759
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variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

QD
type: SiteQuality
SIO_000300: 8.08e0

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.396e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.569e0

DP
type: SiteQuality
SIO_000300: 2.410537e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

GenotypeQuality
all individuals: 32368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2
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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: 2
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 9.75e1
variant carriers: 1

Other
type: Population
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European (Non-Finnish)
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allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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QD
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DP
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 2.6e-1

BaseQRankSum
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MQ
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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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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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Other
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

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

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

Other
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South Asian
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.955e1

DP
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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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: 5.34e0

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.403286e6

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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variant carriers: 0

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

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

DP
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
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BaseQRankSum
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SIO_000300: -1.701e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 10406
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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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 frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

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

Latino
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South Asian
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African
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allele frequency: 5.765904285988853e-4
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European (Finnish)
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European (Non-Finnish)
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.185e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.056e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

DP
type: SiteQuality
SIO_000300: 2.402982e6

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990380293086398e-5
allele num: 66738
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 2.402672e6

FS
type: SiteQuality
SIO_000300: 2.359e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.346e1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

DP
type: SiteQuality
SIO_000300: 2.402672e6

FS
type: SiteQuality
SIO_000300: 2.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.346e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

GenotypeQuality
all individuals: 3972
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32393
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.737e0

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 6.06e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.885e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.401637e6

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

GenotypeQuality
all individuals: 32387
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
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variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 9.75e1
variant carriers: 90

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 85
allele frequency: 8.168364405150874e-3
allele num: 10406
num of homozygotes: 1

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

Latino
type: Population
allele count: 4
allele frequency: 3.459609064175748e-4
allele num: 11562
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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 2.408409e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.358e0

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
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variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.043115438108484e-3
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 2.397641e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 6.728181468665898e-4
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.79834552211965e-4
allele num: 66728
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 2.397891e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.52e1

GenotypeQuality
all individuals: 3854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32428
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 693
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variant carriers: 0

GenotypeQuality
all individuals: 3981
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 14786
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variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.365e0

VQSLOD
type: SiteQuality
SIO_000300: -2.954e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.328e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.167e0

DP
type: SiteQuality
SIO_000300: 2.395078e6

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
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variant carriers: 0

GenotypeQuality
all individuals: 14782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
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variant carriers: 1

GenotypeQuality
all individuals: 840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 2.849e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 2.394737e6

GenotypeQuality
all individuals: 840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 691
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variant carriers: 0

GenotypeQuality
all individuals: 3979
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variant carriers: 0

GenotypeQuality
all individuals: 32424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.693e0

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.042e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

DP
type: SiteQuality
SIO_000300: 2.3945e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 2.394107e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

FS
type: SiteQuality
SIO_000300: 5.325e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35510
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495352881213648e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

DP
type: SiteQuality
SIO_000300: 2.89007e6

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 2.888599e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.094e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.365e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

DP
type: SiteQuality
SIO_000300: 2.888371e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.257e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

FS
type: SiteQuality
SIO_000300: 1.803e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

DP
type: SiteQuality
SIO_000300: 2.887921e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2898
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.887921e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

FS
type: SiteQuality
SIO_000300: 1.803e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.422e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 2.885925e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 32

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 29
allele frequency: 2.837573385518591e-3
allele num: 10220
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 13
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

QD
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SIO_000300: 1.268e1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 1.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 2.883325e6

GenotypeQuality
all individuals: 35485
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.805844283192783e-5
allele num: 10198
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 2.882725e6

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.961168856638557e-4
allele num: 10198
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 2.882725e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.778e0

QD
type: SiteQuality
SIO_000300: 1.273e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.881742e6

FS
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.915e0

QD
type: SiteQuality
SIO_000300: 1.313e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 2.881805e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

East Asian
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allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.881805e6

VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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ClippingRankSum
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SIO_000300: -5.4e-2

InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

BaseQRankSum
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SIO_000300: 1.73e0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 8.68e-1

ReadPosRankSum
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SIO_000300: -3.39e-1

DP
type: SiteQuality
SIO_000300: 2.880264e6

QD
type: SiteQuality
SIO_000300: 1.232e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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African
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Latino
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Other
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Non-Finnish)
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allele num: 66642
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Other
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Latino
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European (Finnish)
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MQ
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QD
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele num: 66642
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South Asian
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
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Other
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num of homozygotes: 0

European (Finnish)
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Latino
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allele num: 11574
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DP
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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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
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66640
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European (Finnish)
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Latino
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East Asian
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Other
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African
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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African
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South Asian
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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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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GenotypeQuality
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Other
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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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