12-41327376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327376
    reference: chr 12
allele count: 7
allele frequency: 5.817432351572369e-5
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+14C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+14C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+14C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+14C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+14C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+14C>T
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

12-41327377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327377
    reference: chr 12
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+15A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+15A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+15A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+15A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+15A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+15A>G
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

12-41327383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327383
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327383
    reference: chr 12
allele count: 1
allele frequency: 8.398703240219711e-6
allele num: 119066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+21A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+21A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+21A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+21A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+21A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+21A>G
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31387
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-41327391-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327391
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327391
    reference: chr 12
allele count: 1
allele frequency: 8.457088731774973e-6
allele num: 118244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+29A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+29A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+29A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+29A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+29A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+29A>G
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-41327395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327395
    reference: chr 12
allele count: 1
allele frequency: 8.454943605526151e-6
allele num: 118274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+33A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+33A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+33A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+33A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+33A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+33A>G
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-41327397-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327397
    reference: chr 12
allele count: 5
allele frequency: 4.23169369308372e-5
allele num: 118156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+35A>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+35A>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+35A>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+35A>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+35A>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+35A>C
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31387
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-41327400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327400
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327400
    reference: chr 12
allele count: 3
allele frequency: 2.541123854376662e-5
allele num: 118058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+38T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+38T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+38T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+38T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+38T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+38T>C
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31389
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-41327405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327405
    reference: chr 12
allele count: 1
allele frequency: 8.464676903282601e-6
allele num: 118138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+43C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+43C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+43C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+43C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+43C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+43C>T
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-41327412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327412
    reference: chr 12
allele count: 1
allele frequency: 8.452942469273554e-6
allele num: 118302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+50A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+50A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+50A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+50A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+50A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+50A>G
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-41327414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327414
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327414
    reference: chr 12
allele count: 12
allele frequency: 1.014318800398965e-4
allele num: 118306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+52G>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+52G>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+52G>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+52G>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+52G>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+52G>A
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31444
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-41327414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327414
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327414
    reference: chr 12
allele count: 29
allele frequency: 2.4512704342975e-4
allele num: 118306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.803+52G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.803+52G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.770+52G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.803+52G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.803+52G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.803+52G>C
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-41327462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327462
    reference: chr 12
allele count: 2
allele frequency: 1.662980393461161e-5
allele num: 120266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-37T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-37T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-37T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-37T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-37T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-37T>C
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

12-41327464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327464
    reference: chr 12
allele count: 3
allele frequency: 2.494304671001214e-5
allele num: 120274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-35T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-35T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-35T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-35T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-35T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-35T>C
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

12-41327477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327477
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327477
    reference: chr 12
allele count: 117
allele frequency: 9.722937823059152e-4
allele num: 120334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-22C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-22C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-22C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-22C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-22C>T
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-22C>T
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17591
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-41327478-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327478
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327478
    reference: chr 12
allele count: 1
allele frequency: 8.309650828472188e-6
allele num: 120342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-21C>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-21C>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-21C>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-21C>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-21C>A
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-21C>A
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

12-41327482-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327482
    reference: chr 12
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-17G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-17G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-17G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-17G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-17G>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-17G>C
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-41327484-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327483
    reference: chr 12
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-14delT
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-14delT
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-14delT
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-14delT
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-14delT
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-14delT
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: AT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

12-41327487-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327487
    reference: chr 12
allele count: 2
allele frequency: 1.661019201381968e-5
allele num: 120408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-12T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-12T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-12T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-12T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-12T>C
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-12T>C
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

12-41327491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327491
    reference: chr 12
allele count: 139
allele frequency: 1.154178291483991e-3
allele num: 120432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.804-8A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.804-8A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.771-8A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.804-8A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.804-8A>G
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.804-8A>G
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 9.75e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: c.804-8A>G
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-41327503-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327503
    reference: chr 12
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.808G>C
  hgvsp: ENSP00000448653.1:p.Val270Leu
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.808G>C
  hgvsp: ENSP00000353213.3:p.Val270Leu
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.808G>C
  hgvsp: ENSP00000447006.1:p.Val270Leu
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.808G>C
  hgvsp: ENSP00000325660.3:p.Val270Leu
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.775G>C
  hgvsp: ENSP00000261160.3:p.Val259Leu
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.808G>C
  hgvsp: ENSP00000448004.1:p.Val270Leu
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val270Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-41327508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327508
    reference: chr 12
allele count: 12
allele frequency: 9.949918742330271e-5
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.813G>A
  hgvsp: ENST00000360099.3:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.780G>A
  hgvsp: ENST00000348761.2:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.813G>A
  hgvsp: ENST00000347616.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.813G>A
  hgvsp: ENST00000547702.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.813G>A
  hgvsp: ENST00000547849.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.813G>A
  hgvsp: ENST00000551295.2:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro271Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

12-41327510-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327510
    reference: chr 12
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.815A>G
  hgvsp: ENSP00000325660.3:p.Asp272Gly
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.815A>G
  hgvsp: ENSP00000448004.1:p.Asp272Gly
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.815A>G
  hgvsp: ENSP00000353213.3:p.Asp272Gly
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.815A>G
  hgvsp: ENSP00000447006.1:p.Asp272Gly
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.782A>G
  hgvsp: ENSP00000261160.3:p.Asp261Gly
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.815A>G
  hgvsp: ENSP00000448653.1:p.Asp272Gly
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp272Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-41327516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327516
    reference: chr 12
allele count: 3
allele frequency: 2.486490070616318e-5
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.788G>A
  hgvsp: ENSP00000261160.3:p.Arg263Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.821G>A
  hgvsp: ENSP00000325660.3:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.821G>A
  hgvsp: ENSP00000447006.1:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.821G>A
  hgvsp: ENSP00000448004.1:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.821G>A
  hgvsp: ENSP00000353213.3:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.821G>A
  hgvsp: ENSP00000448653.1:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg274Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-41327521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327521
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327521
    reference: chr 12
allele count: 3
allele frequency: 2.48616037391852e-5
allele num: 120668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.826C>T
  hgvsp: ENSP00000448004.1:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.793C>T
  hgvsp: ENSP00000261160.3:p.Arg265Trp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.826C>T
  hgvsp: ENSP00000353213.3:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.826C>T
  hgvsp: ENSP00000447006.1:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.826C>T
  hgvsp: ENSP00000448653.1:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.826C>T
  hgvsp: ENSP00000325660.3:p.Arg276Trp
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg276Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-41327522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327522
    reference: chr 12
allele count: 11
allele frequency: 9.115921371034574e-5
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.827G>A
  hgvsp: ENSP00000448653.1:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.827G>A
  hgvsp: ENSP00000448004.1:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.827G>A
  hgvsp: ENSP00000353213.3:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.827G>A
  hgvsp: ENSP00000325660.3:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.827G>A
  hgvsp: ENSP00000447006.1:p.Arg276Gln
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.794G>A
  hgvsp: ENSP00000261160.3:p.Arg265Gln
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg276Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

12-41327523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327523
    reference: chr 12
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.828G>A
  hgvsp: ENST00000551295.2:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.828G>A
  hgvsp: ENST00000360099.3:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.828G>A
  hgvsp: ENST00000347616.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.828G>A
  hgvsp: ENST00000547702.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.828G>A
  hgvsp: ENST00000547849.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.795G>A
  hgvsp: ENST00000348761.2:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg276Arg
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: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-41327523-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327523
    reference: chr 12
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.828G>C
  hgvsp: ENST00000347616.1:c.828G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.795G>C
  hgvsp: ENST00000348761.2:c.795G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.828G>C
  hgvsp: ENST00000360099.3:c.828G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.828G>C
  hgvsp: ENST00000551295.2:c.828G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.828G>C
  hgvsp: ENST00000547702.1:c.828G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.828G>C
  hgvsp: ENST00000547849.1:c.828G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg276Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-41327532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327532
    reference: chr 12
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.837A>G
  hgvsp: ENST00000547849.1:c.837A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.837A>G
  hgvsp: ENST00000360099.3:c.837A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.804A>G
  hgvsp: ENST00000348761.2:c.804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.837A>G
  hgvsp: ENST00000551295.2:c.837A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.837A>G
  hgvsp: ENST00000547702.1:c.837A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.837A>G
  hgvsp: ENST00000347616.1:c.837A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu279Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

12-41327543-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327543
    reference: chr 12
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.848C>G
  hgvsp: ENSP00000353213.3:p.Pro283Arg
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.848C>G
  hgvsp: ENSP00000448004.1:p.Pro283Arg
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.815C>G
  hgvsp: ENSP00000261160.3:p.Pro272Arg
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.848C>G
  hgvsp: ENSP00000448653.1:p.Pro283Arg
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.848C>G
  hgvsp: ENSP00000447006.1:p.Pro283Arg
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.848C>G
  hgvsp: ENSP00000325660.3:p.Pro283Arg
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro283Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

12-41327550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327550
    reference: chr 12
allele count: 22
allele frequency: 1.822247991385737e-4
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.822T>C
  hgvsp: ENST00000348761.2:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.855T>C
  hgvsp: ENST00000547702.1:c.855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.855T>C
  hgvsp: ENST00000551295.2:c.855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.855T>C
  hgvsp: ENST00000547849.1:c.855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.855T>C
  hgvsp: ENST00000360099.3:c.855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.855T>C
  hgvsp: ENST00000347616.1:c.855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr285Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

12-41327561-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327561
    reference: chr 12
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.866G>C
  hgvsp: ENSP00000448004.1:p.Ser289Thr
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.866G>C
  hgvsp: ENSP00000325660.3:p.Ser289Thr
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.866G>C
  hgvsp: ENSP00000447006.1:p.Ser289Thr
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.833G>C
  hgvsp: ENSP00000261160.3:p.Ser278Thr
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.866G>C
  hgvsp: ENSP00000448653.1:p.Ser289Thr
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.866G>C
  hgvsp: ENSP00000353213.3:p.Ser289Thr
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser289Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-41327565-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327565
    reference: chr 12
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.837C>A
  hgvsp: ENST00000348761.2:c.837C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.870C>A
  hgvsp: ENST00000347616.1:c.870C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.870C>A
  hgvsp: ENST00000547849.1:c.870C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.870C>A
  hgvsp: ENST00000551295.2:c.870C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.870C>A
  hgvsp: ENST00000360099.3:c.870C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.870C>A
  hgvsp: ENST00000547702.1:c.870C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr290Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-41327567-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327568
    reference: chr 12
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.873dupT
  hgvsp: ENSP00000447006.1:p.Gly292TrpfsTer5
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.873dupT
  hgvsp: ENSP00000325660.3:p.Gly292TrpfsTer5
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.873dupT
  hgvsp: ENSP00000448653.1:p.Gly292TrpfsTer5
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.873dupT
  hgvsp: ENSP00000353213.3:p.Gly292TrpfsTer5
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.840dupT
  hgvsp: ENSP00000261160.3:p.Gly281TrpfsTer5
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.873dupT
  hgvsp: ENSP00000448004.1:p.Gly292TrpfsTer5
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly292TrpfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

12-41327568-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327568
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327568
    reference: chr 12
allele count: 68
allele frequency: 5.634456357821123e-4
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.873T>A
  hgvsp: ENST00000547702.1:c.873T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.873T>A
  hgvsp: ENST00000347616.1:c.873T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.873T>A
  hgvsp: ENST00000360099.3:c.873T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.873T>A
  hgvsp: ENST00000547849.1:c.873T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.873T>A
  hgvsp: ENST00000551295.2:c.873T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.840T>A
  hgvsp: ENST00000348761.2:c.840T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser291Ser
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-41327577-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327577
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327577
    reference: chr 12
allele count: 3
allele frequency: 2.486696175461282e-5
allele num: 120642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.882T>C
  hgvsp: ENST00000360099.3:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.849T>C
  hgvsp: ENST00000348761.2:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.882T>C
  hgvsp: ENST00000547849.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.882T>C
  hgvsp: ENST00000347616.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.882T>C
  hgvsp: ENST00000547702.1:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.882T>C
  hgvsp: ENST00000551295.2:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val294Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

12-41327583-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327583
    reference: chr 12
allele count: 2
allele frequency: 1.657989853102099e-5
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.888G>T
  hgvsp: ENSP00000447006.1:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.855G>T
  hgvsp: ENSP00000261160.3:p.Lys285Asn
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.888G>T
  hgvsp: ENSP00000448653.1:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.888G>T
  hgvsp: ENSP00000325660.3:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.888G>T
  hgvsp: ENSP00000353213.3:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.888G>T
  hgvsp: ENSP00000448004.1:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys296Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

12-41327584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327584
    reference: chr 12
allele count: 2
allele frequency: 1.658017342861406e-5
allele num: 120626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.889A>G
  hgvsp: ENSP00000447006.1:p.Ile297Val
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.889A>G
  hgvsp: ENSP00000448004.1:p.Ile297Val
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.889A>G
  hgvsp: ENSP00000353213.3:p.Ile297Val
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.889A>G
  hgvsp: ENSP00000325660.3:p.Ile297Val
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.856A>G
  hgvsp: ENSP00000261160.3:p.Ile286Val
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.889A>G
  hgvsp: ENSP00000448653.1:p.Ile297Val
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile297Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

12-41327585-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327585
    reference: chr 12
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.857T>G
  hgvsp: ENSP00000261160.3:p.Ile286Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.890T>G
  hgvsp: ENSP00000447006.1:p.Ile297Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.890T>G
  hgvsp: ENSP00000448653.1:p.Ile297Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.890T>G
  hgvsp: ENSP00000448004.1:p.Ile297Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.890T>G
  hgvsp: ENSP00000353213.3:p.Ile297Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.890T>G
  hgvsp: ENSP00000325660.3:p.Ile297Ser
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile297Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-41327591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327591
    reference: chr 12
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.896A>G
  hgvsp: ENSP00000447006.1:p.Asn299Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.896A>G
  hgvsp: ENSP00000448004.1:p.Asn299Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.896A>G
  hgvsp: ENSP00000353213.3:p.Asn299Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.863A>G
  hgvsp: ENSP00000261160.3:p.Asn288Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.896A>G
  hgvsp: ENSP00000325660.3:p.Asn299Ser
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.896A>G
  hgvsp: ENSP00000448653.1:p.Asn299Ser
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn299Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-41327600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327600
    reference: chr 12
allele count: 12
allele frequency: 9.951734089665124e-5
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.905T>C
  hgvsp: ENSP00000325660.3:p.Leu302Pro
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.905T>C
  hgvsp: ENSP00000448653.1:p.Leu302Pro
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.872T>C
  hgvsp: ENSP00000261160.3:p.Leu291Pro
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.905T>C
  hgvsp: ENSP00000353213.3:p.Leu302Pro
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.905T>C
  hgvsp: ENSP00000448004.1:p.Leu302Pro
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.905T>C
  hgvsp: ENSP00000447006.1:p.Leu302Pro
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu302Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

12-41327604-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327604
    reference: chr 12
allele count: 2
allele frequency: 1.658869977771142e-5
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.909A>T
  hgvsp: ENSP00000448653.1:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.909A>T
  hgvsp: ENSP00000447006.1:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.909A>T
  hgvsp: ENSP00000353213.3:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.909A>T
  hgvsp: ENSP00000325660.3:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.876A>T
  hgvsp: ENSP00000261160.3:p.Glu292Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.909A>T
  hgvsp: ENSP00000448004.1:p.Glu303Asp
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu303Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-41327612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41327612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 41327612
    reference: chr 12
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000325660
  ensembl transcript: ENST00000347616
  gene symbol: CNTN1
  hgvsc: ENST00000347616.1:c.917G>A
  hgvsp: ENSP00000325660.3:p.Gly306Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000447006
  ensembl transcript: ENST00000551295
  gene symbol: CNTN1
  hgvsc: ENST00000551295.2:c.917G>A
  hgvsp: ENSP00000447006.1:p.Gly306Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000353213
  ensembl transcript: ENST00000360099
  gene symbol: CNTN1
  hgvsc: ENST00000360099.3:c.917G>A
  hgvsp: ENSP00000353213.3:p.Gly306Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448653
  ensembl transcript: ENST00000547849
  gene symbol: CNTN1
  hgvsc: ENST00000547849.1:c.917G>A
  hgvsp: ENSP00000448653.1:p.Gly306Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000448004
  ensembl transcript: ENST00000547702
  gene symbol: CNTN1
  hgvsc: ENST00000547702.1:c.917G>A
  hgvsp: ENSP00000448004.1:p.Gly306Asp
  variant of: http://identifiers.org/hgnc/2171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000018236
  ensembl protein: ENSP00000261160
  ensembl transcript: ENST00000348761
  gene symbol: CNTN1
  hgvsc: ENST00000348761.2:c.884G>A
  hgvsp: ENSP00000261160.3:p.Gly295Asp
  variant of: http://identifiers.org/hgnc/2171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly306Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

14-24684969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684969
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684969
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.115C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.79C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.91C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.187C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.418C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.72C>T
  hgvsp: ENST00000288087.7:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.72C>T
  hgvsp: ENST00000396833.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.184C>T
  hgvsp: ENSP00000432117.2:p.Arg62Cys
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.104C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.297C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.275C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.36C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-101C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.145C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-101C>T
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29903
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg62Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-24684972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684972
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684972
    reference: chr 14
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.69G>A
  hgvsp: ENST00000288087.7:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.101G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.294G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.415G>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.33G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-104G>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.69G>A
  hgvsp: ENST00000396833.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.272G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.181G>A
  hgvsp: ENSP00000432117.2:p.Ala61Thr
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-104G>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.112G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.184G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.142G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.76G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.88G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala61Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

14-24684979-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684979
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684979
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.81T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.62T>A
  hgvsp: ENSP00000380045.2:p.Val21Asp
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.94T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.177T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-111T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.408T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.69T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.174T>A
  hgvsp: ENST00000530579.2:c.174T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.105T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.62T>A
  hgvsp: ENSP00000288087.7:p.Val21Asp
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.26T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.135T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.265T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-111T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.287T>A
  variant of: http://identifiers.org/hgnc/28781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val21Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

14-24684985-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684985
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.281T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-117T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.63T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.171T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.56T>A
  hgvsp: ENSP00000380045.2:p.Phe19Tyr
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.168T>A
  hgvsp: ENSP00000432117.2:p.Phe56Leu
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.99T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.129T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.20T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.402T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.75T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.259T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.88T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.56T>A
  hgvsp: ENSP00000288087.7:p.Phe19Tyr
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-117T>A
  variant of: http://identifiers.org/hgnc/39551
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe19Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

14-24684988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684988
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684988
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.126C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.278C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.53C>T
  hgvsp: ENSP00000288087.7:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.72C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.96C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.399C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.60C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.168C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.165C>T
  hgvsp: ENST00000530579.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.53C>T
  hgvsp: ENSP00000380045.2:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.256C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.85C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-120C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-120C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.17C>T
  variant of: http://identifiers.org/hgnc/28781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro18Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

14-24684991-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684991
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684989
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.163_164delCT
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.80_81delCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.251_252delCT
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.67_68delCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.48_49delCT
  hgvsp: ENSP00000380045.2:p.Trp17AlafsTer14
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.121_122delCT
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.55_56delCT
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.48_49delCT
  hgvsp: ENSP00000288087.7:p.Trp17AlafsTer14
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.160_161delCT
  hgvsp: ENSP00000432117.2:p.Leu54GlyfsTer9
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.273_274delCT
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.394_395delCT
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.12_13delCT
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-125_150-124delCT
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.91_92delCT
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-125_188-124delCT
  variant of: http://identifiers.org/hgnc/39551
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp17AlafsTer14
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: CAG
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

14-24684997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684997
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684997
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.44C>T
  hgvsp: ENSP00000288087.7:p.Thr15Ile
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.269C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.87C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.76C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.117C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-129C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.63C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.51C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.44C>T
  hgvsp: ENSP00000380045.2:p.Thr15Ile
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.390C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.8C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.247C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-129C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.156C>T
  hgvsp: ENST00000530579.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.159C>T
  variant of: http://identifiers.org/hgnc/28781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr15Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

14-24684998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684998
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684998
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.86A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.155A>G
  hgvsp: ENSP00000432117.2:p.His52Arg
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.50A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.246A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-130A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.389A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.116A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.268A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.158A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.43A>G
  hgvsp: ENSP00000380045.2:p.Thr15Ala
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.7A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-130A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.75A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.43A>G
  hgvsp: ENSP00000288087.7:p.Thr15Ala
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.62A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr15Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-24684999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24684999
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24684999
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.157C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.6C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.267C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.245C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.85C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.154C>T
  hgvsp: ENSP00000432117.2:p.His52Tyr
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.61C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.42C>T
  hgvsp: ENST00000396833.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.115C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-131C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.388C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.42C>T
  hgvsp: ENST00000288087.7:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-131C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.49C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.74C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His52Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

14-24685000-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685000
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685000
    reference: chr 14
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.156A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.41A>G
  hgvsp: ENSP00000288087.7:p.Tyr14Cys
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.5A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.84A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.73A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.266A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-132A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.41A>G
  hgvsp: ENSP00000380045.2:p.Tyr14Cys
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.153A>G
  hgvsp: ENST00000530579.2:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.244A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.48A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-132A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.114A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.387A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.60A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr14Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

14-24685001-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685001
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685001
    reference: chr 14
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-133T>C
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.72T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.265T>C
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.155T>C
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.59T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.152T>C
  hgvsp: ENSP00000432117.2:p.Leu51Ser
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.386T>C
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.47T>C
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.243T>C
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.113T>C
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.40T>C
  hgvsp: ENSP00000288087.7:p.Tyr14His
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.40T>C
  hgvsp: ENSP00000380045.2:p.Tyr14His
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000531553
  gene symbol: MDP1
  hgvsc: ENST00000531553.1:n.4T>C
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-133T>C
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.83T>C
  variant of: http://identifiers.org/hgnc/28781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr14His
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: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

14-24685008-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685008
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685008
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-5C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-5C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-5C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-5C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.258C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-5C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-5C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-140C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-5C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-5C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.76C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-140C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.236C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-5C>A
  variant of: http://identifiers.org/hgnc/28781
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.38-5C>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-24685010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685010
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685010
    reference: chr 14
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.256C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-7C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-7C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-7C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-7C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.74C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.234C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-7C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-7C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-7C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-7C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-142C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-7C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-142C>T
  variant of: http://identifiers.org/hgnc/39551
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.38-7C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

14-24685027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685027
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685027
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-24C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-24C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.239C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-24C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-24C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.57C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-24C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-24C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.217C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-159C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-24C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-24C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-159C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-24C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-24685032-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685032
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685032
    reference: chr 14
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-29C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-29C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-29C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-164C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-29C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-29C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-29C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-29C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.212C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.52C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.234C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-164C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-29C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-29C>G
  variant of: http://identifiers.org/hgnc/28781
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

14-24685038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685038
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685038
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-35C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-170C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-35C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-35C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.46C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-35C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.228C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-35C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-170C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-35C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-35C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-35C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.206C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-35C>T
  variant of: http://identifiers.org/hgnc/28781
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-24685038-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685038
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685038
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-35C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-35C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.206C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-35C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-170C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-35C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-35C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-35C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-35C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-170C>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.46C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.228C>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-35C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-35C>G
  variant of: http://identifiers.org/hgnc/28781
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-24685039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685039
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685039
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.45C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-36C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-36C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.227C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-36C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-36C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-171C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.205C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-36C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-36C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-36C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-36C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-171C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-36C>T
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-24685040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685040
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685040
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-37G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.226G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-37G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-172G>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-37G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-37G>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-37G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.44G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.204G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-37G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-37G>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-37G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-37G>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-172G>A
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

14-24685041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685041
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685041
    reference: chr 14
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-38C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-38C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.225C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.203C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.43C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-38C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-38C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-38C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-173C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-38C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-38C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-173C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-38C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-38C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-24685046-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685046
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685046
    reference: chr 14
allele count: 11
allele frequency: 9.060209208467177e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.198T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-43T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-43T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-43T>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.220T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-43T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-43T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-43T>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.38T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-178T>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-43T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-43T>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-43T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-178T>G
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29899
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

14-24685047-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685047
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685047
    reference: chr 14
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.219A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.45-44A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.153-44A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.111-44A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.38-44A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.197A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-179A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-44A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.38-44A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.57-44A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.37A>G
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.70-44A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-44A>G
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-179A>G
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-24685075-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685075
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685075
    reference: chr 14
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.9T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-72T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.191T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.44+50T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.169T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.37+50T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-207T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.69+50T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-72T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.110+19T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.152+50T>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.56+50T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-207T>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.37+50T>A
  variant of: http://identifiers.org/hgnc/28781
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

14-24685075-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685075
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685073
    reference: chr 14
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-74_384-73delCA
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.37+48_37+49delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.56+48_56+49delCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.110+17_110+18delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532557
  gene symbol: MDP1
  hgvsc: ENST00000532557.1:n.7_8delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.189_190delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.69+48_69+49delCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.44+48_44+49delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.152+48_152+49delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-74_150-73delCA
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.167_168delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-209_150-208delCA
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.37+48_37+49delCA
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-209_188-208delCA
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: ATG
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

14-24685086-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685086
    reference: chr 14
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-83C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.152+39C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.180C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.37+39C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.158C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.37+39C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.69+39C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.110+8C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.44+39C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.56+39C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-218C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-83C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-218C>A
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: n.110+8C>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-24685088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685088
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685088
    reference: chr 14
allele count: 13
allele frequency: 1.070840197693575e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.110+6C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.69+37C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-85C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.56+37C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.37+37C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.178C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-220C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.156C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.44+37C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.37+37C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-85C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.152+37C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-220C>T
  variant of: http://identifiers.org/hgnc/39551
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.110+6C>T
num of homozygotes: 1
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-24685090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685090
    reference: chr 14
allele count: 26
allele frequency: 2.14168039538715e-4
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.152+35C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000528804
  gene symbol: AL136419.6
  hgvsc: ENST00000528804.1:n.69+35C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000474249
  ensembl transcript: ENST00000605847
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000605847.1:c.188-222C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-87C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000380045
  ensembl transcript: ENST00000396833
  gene symbol: MDP1
  hgvsc: ENST00000396833.2:c.37+35C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl transcript: ENST00000604306
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000604306.1:n.384-87C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.110+4C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.176C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.44+35C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.154C>T
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-222C>T
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.56+35C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.37+35C>T
  variant of: http://identifiers.org/hgnc/28781
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.110+4C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-24685090-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24685090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24685090
    reference: chr 14
allele count: 7
allele frequency: 5.766062602965403e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000532742
  gene symbol: MDP1
  hgvsc: ENST00000532742.1:n.152+35C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl protein: ENSP00000288087
  ensembl transcript: ENST00000288087
  gene symbol: MDP1
  hgvsc: ENST00000288087.7:c.37+35C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000431482
  ensembl transcript: ENST00000534348
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000534348.1:c.150-222C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260669
  ensembl transcript: ENST00000565988
  gene symbol: AL136419.6
  hgvsc: ENST00000565988.1:n.56+35C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000530222
  gene symbol: MDP1
  hgvsc: ENST00000530222.1:n.154C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000533536
  gene symbol: MDP1
  hgvsc: ENST00000533536.1:n.110+4C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000528849
  gene symbol: MDP1
  hgvsc: ENST00000528849.1:n.44+35C>A
  variant of: http://identifiers.org/hgnc/28781
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255526
  ensembl protein: ENSP00000432117
  ensembl transcript: ENST00000530579
  gene symbol: NEDD8-MDP1
  hgvsc: ENST00000530579.2:c.150-87C>A
  variant of: http://identifiers.org/hgnc/39551
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213920
  ensembl transcript: ENST00000466422
  gene symbol: MDP1
  hgvsc: ENST00000466422.2:n.176C>A
  variant of: http://identifiers.org/hgnc/28781
canonical: false
consequence: splice region
filter: PASS
hgvs: n.110+4C>A
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31408
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.158508158508159e-4
allele num: 8580
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

FS
type: SiteQuality
SIO_000300: 1.612e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.789e0

DP
type: SiteQuality
SIO_000300: 2.712729e6

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.201e1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31401
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 2.69788e6

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.488e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 1.381e0

GenotypeQuality
all individuals: 904
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.6111e6

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.063e1

VQSLOD
type: SiteQuality
SIO_000300: -2.466e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.828e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
all individuals: 293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31387
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 931
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53817756721836e-5
allele num: 65012
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 1.972e1

DP
type: SiteQuality
SIO_000300: 2.569236e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

VQSLOD
type: SiteQuality
SIO_000300: -2.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 31388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.821453775582216e-5
allele num: 11336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
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: 4.82e0

DP
type: SiteQuality
SIO_000300: 2.562435e6

FS
type: SiteQuality
SIO_000300: 3.987e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.823e0

QD
type: SiteQuality
SIO_000300: 1.715e1

VQSLOD
type: SiteQuality
SIO_000300: -7.355e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 2676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64998
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.447680822420756e-4
allele num: 16342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 8.59e-1

DP
type: SiteQuality
SIO_000300: 2.559261e6

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 1.609e1

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.62064504204787e-5
allele num: 64926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.1269e1

QD
type: SiteQuality
SIO_000300: 1.74e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

DP
type: SiteQuality
SIO_000300: 2.557509e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.971e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

GenotypeQuality
all individuals: 911
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538745614574998e-5
allele num: 64988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.362e0

DP
type: SiteQuality
SIO_000300: 2.559919e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

FS
type: SiteQuality
SIO_000300: 3.892e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.85e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
all individuals: 2945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031140441328109e-4
allele num: 9698
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.570059e6

VQSLOD
type: SiteQuality
SIO_000300: -1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.831e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 4.624e0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7747
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.842865040850175e-4
allele num: 65116
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.575262e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

GenotypeQuality
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31444
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 3009
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65116
num of homozygotes: 0

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

East Asian
type: Population
allele count: 29
allele frequency: 3.445817490494297e-3
allele num: 8416
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.575262e6

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

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

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020144362900547e-5
allele num: 66222
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: 10136
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.863147e6

FS
type: SiteQuality
SIO_000300: 8.630000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 9.75e1
variant carriers: 3

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: 66226
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.959747434885557e-4
allele num: 10136
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

FS
type: SiteQuality
SIO_000300: 3.234e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

DP
type: SiteQuality
SIO_000300: 1.863431e6

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 9.75e1
variant carriers: 114

GenotypeQuality
all individuals: 9657
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 117
allele frequency: 1.766197693376004e-3
allele num: 66244
num of homozygotes: 3

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
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: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 5.86e-1

DP
type: SiteQuality
SIO_000300: 1.867584e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.12e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3612
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2057
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.861799e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.522e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

DP
type: SiteQuality
SIO_000300: 1.862488e6

VQSLOD
type: SiteQuality
SIO_000300: -4.59e-2

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 1131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39793
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
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: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

DP
type: SiteQuality
SIO_000300: 1.862703e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.17e-1

GenotypeQuality
all individuals: 2059
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
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GenotypeQuality
all individuals: 39831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9681
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.327205026762858e-4
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 6588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.342e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 1.863161e6

FS
type: SiteQuality
SIO_000300: 5.082e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 110
allele frequency: 1.659826170931917e-3
allele num: 66272
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.032054395337543e-3
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.271481286241434e-4
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.553734061930783e-4
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.958863858961802e-4
allele num: 10210
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.867537e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

FS
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.43e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

DP
type: SiteQuality
SIO_000300: 1.860302e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.034e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 40136
bin: 6.25e1
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GenotypeQuality
all individuals: 1968
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
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: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.275806077476224e-3
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.8615e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 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: 6596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.026e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

DP
type: SiteQuality
SIO_000300: 1.860706e6

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 8.09e0

GenotypeQuality
all individuals: 1971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40168
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9740
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520659413519785e-5
allele num: 66362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

FS
type: SiteQuality
SIO_000300: 5.955e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.333e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.861201e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 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: 3
allele frequency: 4.520114509567576e-5
allele num: 66370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 1.704e0

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

DP
type: SiteQuality
SIO_000300: 1.861485e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

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

GenotypeQuality
all individuals: 9739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 40209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.784258608573436e-5
allele num: 11384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.032508491023775e-4
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013409673045051e-5
allele num: 66370
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.942124684404739e-4
allele num: 10298
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 1.861835e6

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40190
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

DP
type: SiteQuality
SIO_000300: 1.861052e6

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 1.141e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 1.861052e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.141e0

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: -1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1141
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
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: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

FS
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

DP
type: SiteQuality
SIO_000300: 1.861542e6

QD
type: SiteQuality
SIO_000300: 1.363e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.198e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 9735
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 1.86159e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 5.198e0

QD
type: SiteQuality
SIO_000300: 1.01e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.273808079582676e-3
allele num: 16486
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 1.862066e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 1.094e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

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

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

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

GenotypeQuality
all individuals: 499
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9737
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.405e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.860406e6

FS
type: SiteQuality
SIO_000300: 6.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.058e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9737
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40264
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

QD
type: SiteQuality
SIO_000300: 1.276e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.86034e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 9734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2063
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.099e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.860102e6

QD
type: SiteQuality
SIO_000300: 1.746e1

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 68
allele frequency: 4.12621359223301e-3
allele num: 16480
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

DP
type: SiteQuality
SIO_000300: 1.861366e6

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
all individuals: 1966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 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: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519433564326604e-5
allele num: 66380
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

FS
type: SiteQuality
SIO_000300: 7.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.857175e6

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.855e0

QD
type: SiteQuality
SIO_000300: 1.296e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.857057e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013228071232712e-5
allele num: 66374
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
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: 6592
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.856849e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

FS
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9743
bin: 6.75e1
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: 11372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
type: SiteQuality
SIO_000300: 1.83e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.856786e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40251
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.717e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.86e0

DP
type: SiteQuality
SIO_000300: 1.856577e6

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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bin: 7.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.288629737609329e-4
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.856603e6

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 4.237e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.761183515322297e-4
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 1.855882e6

VQSLOD
type: SiteQuality
SIO_000300: -5.367e-1

BaseQRankSum
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SIO_000300: -1.276e0

QD
type: SiteQuality
SIO_000300: 1.528e1

FS
type: SiteQuality
SIO_000300: 1.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 9.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -2.843e0

FS
type: SiteQuality
SIO_000300: 8.081e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.855657e6

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.590886e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.376e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.373e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1063
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GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.749e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.294e1

MQ
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SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 5.59089e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
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 (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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South Asian
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East Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
type: SiteQuality
SIO_000300: 5.590735e6

QD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -6.929999999999999e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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FS
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DP
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MQ
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MQRankSum
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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South Asian
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East Asian
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VQSLOD
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DP
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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DP
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QD
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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African
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DP
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MQ
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MQ
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66738
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

African
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Other
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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South Asian
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Other
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European (Non-Finnish)
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allele num: 66736
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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FS
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SIO_000300: 1.0379e1

ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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South Asian
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Other
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African
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Latino
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num of homozygotes: 0

European (Finnish)
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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DP
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

Other
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
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

DP
type: SiteQuality
SIO_000300: 2.512462e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.159e0

QD
type: SiteQuality
SIO_000300: 1.747e1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

GenotypeDepth
all individuals: 824
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6501
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21699
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.512036e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.835e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.39e0

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.121e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.731e0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

GenotypeDepth
all individuals: 4881
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3252
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2399
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5021
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21700
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

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

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: 1

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.761e-1

FS
type: SiteQuality
SIO_000300: 4.077e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.36e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

DP
type: SiteQuality
SIO_000300: 2.51207e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeDepth
all individuals: 1287
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 1364
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3253
bin: 5.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13728
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21695
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3043
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5020
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2399
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 18
allele frequency: 1.554672655035412e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

DP
type: SiteQuality
SIO_000300: 2.511404e6

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.453e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4